Dermatitis
Basic details
Preferred term: Dermatitis
Alt. terms: inflammatory abnormality of the skin | Inflammatory skin disease | Skin inflammation
HPO term: Inflammatory abnormality of the skin
HPO code: HP:0011123
GenIA ID: 109
Last updated on: 2024-04-25 14:48:58
Cross ref. with other ontologies
NCIT: C2983
MESH: D003872
EFO: -
OAE: -
SNOMEDCT: -
ICD10: L30
Description
The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis.
Hierarchical classification
TERM
Dermatitis
CHILD terms
- Eczema
- Psoriasiform dermatitis
- Skin rash
- Erythroderma
- Folliculitis
- erythema nodosum
- Acne vulgaris
- Erysipelas
- Chilblains
- Cutaneous abscess
- Frequent skin infections
- Crusting erythematous dermatitis
- Perifolliculitis
- Superficial dermal perivascular inflammatory infiltrate
- Deep dermal perivascular inflammatory infiltrate
- Neutrophilic infiltration of the skin
- Eosinophilic dermal infiltration
- Pseudo-chilblain
- Pustule
- Purulent drainage from skin
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101020 | F | 210008![]() |
- | German | Frequent skin infections | NFKB1 insufficiency | PMID:34975878 [Fam.F005:P005]; PMID:32278790 [Fam.AU:II.3(II.3)]; PMID:29403474 [Patient 28 (11)]; PMID:150198 [Fam.AM:II.4(157)]; PMID:27461466 [Fam.199_01:28] |
101036 | F | 210182![]() |
- | Caucasian | Skin rash | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:II.2(B.II.1)]; PMID:29729943 [Fam.B:II.2(B.II.1 (13))]; PMID:34975878 [Fam.F014:III.2(P014)]; PMID:27418640 [P12(5)]; PMID:37740092 [P01] |
101037 | M | 210182![]() |
- | Caucasian | Psoriasiform dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:II.4(B.II.3)]; PMID:30250467 [B.II.3]; PMID:29729943 [Fam.B:II.4(B.II.3 (15))]; PMID:27418640 [P13(5)] |
101047 | F | 210205![]() |
- | Caucasian | Psoriasiform dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.5(A.II.3)]; PMID:29729943 [Fam.A:II.5(A.II.3 (3))] |
101049 | F | 210205![]() |
- | Caucasian | Dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:III.15(A.III.5)]; PMID:29729943 [Fam.A:III.15(A.III.5 (10))] |
101051 | F | 210205![]() |
- | Caucasian | Psoriasiform dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:III.5(A.III.1)]; PMID:30250467 [A.III.1]; PMID:29729943 [Fam.A:III.5(A.III.1 (8))]; PMID:34975878 [Fam.F018:III.1(P021)]; PMID:27418640 [P10(5)] |
101062 | M | 212603![]() |
- | South Asian | Eczema | ARPC1B deficiency | PMID:28368018 [Fam.1:II.1(P1)]; PMID:30771411 [P9]; PMID:34673575 [Fam.1:II.1(P1)] |
101084 | F | 211225 | 39 | Eczema | PMID:34975878 [Fam.F050:P050] | ||
101088 | M | 211560 | 43 | German | Eczema | PMID:34975878 [Fam.F054:P054] | |
101090 | M | 211257 | 40 | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F056:P056]; PMID:37740092 [P13] | |
101108 | F | 212364 | - | Cutaneous abscess | PMID:34390440 [NEG009] | ||
101110 | M | 212356 | - | Eczema | Wiskott-Aldrich syndrome | PMID:34390440 [HIES51] | |
101115 | F | 210778 | - | Caucasian | Eczema | NFKB1 insufficiency | PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427] |
101124 | F | 210216 | 58 | German | Psoriasiform dermatitis | PMID:34975878 [Fam.F075:P075] | |
101125 | M | 210429 | 30 | German | Psoriasiform dermatitis | Immunodeficiency, common variable, 1 | PMID:34975878 [Fam.F076:P076]; PMID:35486341 [P060] |
101129 | F | 210906 | 33 | German | Chilblains | PMID:34975878 [Fam.F078:P078] | |
101153 | M | 210757 | - | German | Eczema | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES55] |
101168 | M | 212349 | - | Eczema | PMID:34390440 [NEG015] | ||
101172 | F | 212371 | - | Cutaneous abscess | PMID:34390440 [NEG017] | ||
101190 | F | 212374 | - | Eczema | PMID:34390440 [NEG020] | ||
101191 | M | 212375 | - | Egyptian | Eczema | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES14] |
101192 | M | 212376 | - | Eczema | PMID:34390440 [NEG021] | ||
101193 | F | 212377 | - | Egyptian | Eczema | PMID:34390440 [NEG022] | |
101194 | M | 212378 | - | Egyptian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES49] |
101195 | F | 212379 | - | Egyptian | Eczema | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES19] |
101197 | F | 214344 | - | Egyptian | Eczema | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES18] |
101199 | F | 211483 | - | German | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.YY:II.1(127)]; PMID:34975878 [Fam.F122:P122] |
101204 | M | 211492 | - | German | Cutaneous abscess | PMID:34975878 [Fam.F126:P126] | |
101268 | F | 212145 | 2 | Iranian | Dermatitis | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.D:II.2(P5)]; PMID:29528757 [Case 8]; PMID:26707784 [P5]; PMID:28512785 [P16] |
101384 | M | 210217 | - | German | Psoriasiform dermatitis | NFKB1 insufficiency | PMID:34975878 [Fam.F134:P134]; PMID:32278790 [BN.I.1]; PMID:150198 [Fam.CZ:445]; PMID:36105815 [Y90S] |
101386 | F | 212164 | - | Pakistani | erythema nodosum | Immunodeficiency, common variable, 8 | PMID:22981790 [P1(II.1)]; PMID:26707784 [P11] |
101399 | F | 210189![]() |
2 | German | erythema nodosum | Adenosine deaminase 2 deficiency | PMID:28493328 [P6]; PMID:26922074 [Fam.Index:II.1(sister1)] |
101409 | M | 212168 | 17 | Psoriasiform dermatitis | Immunodeficiency, common variable, 8 | Pseudoxanthoma elasticum | PMID:27057999 [II.2(II.2)]; PMID:27057999 [II.2(II.2)] | |
101433 | M | 210233 | 30 | German | Psoriasiform dermatitis | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F143:P143] |
101446 | M | 212176 | - | North American | Psoriasiform dermatitis | Immunodeficiency, common variable, 8 | PMID:26206937 [P9] |
101458 | F | 210656![]() |
- | Georgian | erythema nodosum | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.E:II.3(E.II.3)]; PMID:29729943 [Fam.E:II.3(E.II.3 (23))]; PMID:27418640 [P19(5)] |
101461 | M | 210929 | - | German | Cutaneous abscess | NFKB1 insufficiency | PMID:34975878 [Fam.F153:P153]; PMID:32278790 [Z.I.1]; PMID:29403474 [Patient 27 (11)]; PMID:27923702 [Patient 6]; PMID:150198 [Fam.AL:151]; PMID:27461466 [Fam.830_01:27] |
101469 | F | 210220![]() |
- | German | Frequent skin infections | NFKB1 insufficiency | PMID:34975878 [Fam.F156:P156]; PMID:32278790 [Fam.089:II.2(II.2)]; PMID:26279205 [Fam.089:II.2(II2)]; PMID:29403474 [Fam.089 (5):II.2(II2)]; PMID:27923702 [Patient 5]; PMID:150198 [Fam.AB:IV.5(099)]; PMID:27461466 [Fam.089:II.2(25)] |
101472 | F | 212398 | - | Spanish | Psoriasiform dermatitis | PMID:30386343 [Fam.Patient:I.2(Mother)] | |
101477 | M | 212400 | - | Iranian | Eczema | Netherton syndrome | PMID:34390440 [HIES31] |
101479 | F | 210314![]() |
- | German | Frequent skin infections | NFKB1 insufficiency | PMID:34975878 [Fam.F160:P160]; PMID:32278790 [Fam.BF:II.2(II.2)]; PMID:29403474 [Fam.(13):II.1(Patient 2)]; PMID:27923702 [Fam.191:II.1(Patient 2)]; PMID:150198 [Fam.AO:II.2(164)]; GRID:001142 [Fam.#:II.2(FR036)] |
101480 | U | 212454 | - | Italian | Skin rash | Severe combined immunodeficiency 9A, T-B- | PMID:11133745 [P23] |
101488 | M | 210401![]() |
- | German | Psoriasiform dermatitis | NFKB1 insufficiency | PMID:34975878 [Fam.F163:P163]; PMID:32278790 [CG.I.1]; PMID:150198 [Fam.BW:II.1(350)]; PMID:31857261 [Patient 16] |
101491 | F | 212457 | - | Hungarian | Skin rash | Severe combined immunodeficiency 9A, T-B- | PMID:29410113 [Patient(II.1)] |
101514 | M | 210220![]() |
- | German | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [Fam.089:I.1(I.1)]; PMID:26279205 [Fam.089:I.1(I1)]; PMID:29403474 [Fam.089 (5):I.1(I1)]; PMID:150198 [Fam.AB:III.3(093)]; PMID:27461466 [Fam.089:I.1(24)] |
101537 | M | 210949 | 51 | Psoriasiform dermatitis | PMID:34975878 [Fam.F178:P178] | ||
101566 | F | 210575![]() |
- | German | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN94]; PMID:18835223 [UPN94]; GRID:000796 [UPN94(II.1)] |
101569 | F | 210220![]() |
- | German | Frequent skin infections | NFKB1 insufficiency | PMID:34975878 [Fam.F192:P192]; PMID:32278790 [AH.I.1]; PMID:150198 [Fam.AB:IV.3(097)]; PMID:31857261 [Patient 5]; GRID:001142 [FR023] |
101570 | M | 212597 | - | German | Cutaneous abscess | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES45] |
101572 | M | 212598 | - | Turkish | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES46] |
101575 | M | 210900 | - | German | Eczema | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F198:P198]; PMID:28493328 [P2] |
101576 | M | 212599 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES47] | |
101577 | M | 212600 | - | Eczema | Immunodeficiency 31C | PMID:34390440 [CMC12] | |
101580 | M | 212601 | - | Iranian | Eczema | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES17] |
101582 | F | 212602 | - | Eczema | PMID:34390440 [NEG025] | ||
101587 | M | 212604![]() |
- | Scottish | Eczema | ARPC1B deficiency | PMID:28368018 [Fam.2:II.1(P2)]; PMID:30771411 [P10(II.1)]; PMID:34673575 [Fam.2:II.3(P2)] |
101591 | M | 212604![]() |
0 | Scottish | Eczema | ARPC1B deficiency | PMID:28368018 [Fam.2:II.2(P3)]; PMID:30771411 [Fam.P10:II.2(P11)]; PMID:34673575 [Fam.2:II.2(P3)] |
101592 | M | 212605![]() |
- | Moroccan | Eczema | ARPC1B deficiency | PMID:27965109 [P1(II.1)]; PMID:30771411 [P1]; PMID:31710310 [Patient]; PMID:32499645 [Case 1]; PMID:34135903 [Patient] |
101596 | M | 212618![]() |
1 | Jewish | Eczema | ARPC1B deficiency | PMID:29127144 [P1(II.1)] |
101597 | M | 212618![]() |
0 | Jewish | Eczema | ARPC1B deficiency | PMID:29127144 [Fam.P1:II.10(P2)]; PMID:30254128 [P7]; PMID:35767111 [P6] |
101601 | M | 212619![]() |
0 | Italian | Eczema | ARPC1B deficiency | PMID:30254128 [Fam.A:II.1(P1)]; PMID:30771411 [P2]; PMID:35967303 [Pt2]; PMID:35767111 [P2] |
101604 | M | 212620![]() |
- | Italian | Eczema | ARPC1B deficiency | PMID:30254128 [Fam.B:II.1(P2)]; PMID:30771411 [P3]; PMID:35967303 [Pt1]; PMID:35767111 [P1] |
101608 | M | 212621![]() |
- | Canadian | Eczema | ARPC1B deficiency | PMID:30254128 [Fam.C:II.1(P3)]; PMID:16019263 [case]; PMID:35967303 [Pt3] |
101611 | M | 212622![]() |
- | Colombian | Eczema | ARPC1B deficiency | PMID:30254128 [Fam.D:II.4(P4)] |
101616 | F | 211098 | - | Eczema | PMID:34975878 [Fam.F211:P211] | ||
101617 | M | 210994 | 16 | Eczema | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F212:P212] | |
101622 | F | 212623![]() |
- | Moroccan | Eczema | ARPC1B deficiency | PMID:30254128 [Fam.E:II.1(P5)] |
101631 | F | 212624![]() |
- | Turkish | Eczema | ARPC1B deficiency | PMID:30254128 [Fam.F:II.1(P6)] |
101652 | M | 212629![]() |
- | Nepalese | Eczema | ARPC1B deficiency | PMID:30771411 [P4(II.1)] |
101655 | F | 212630![]() |
- | Somali | Eczema | ARPC1B deficiency | PMID:30771411 [P5(II.2)]; PMID:35767111 [P3] |
101667 | M | 212631![]() |
- | Moroccan | Eczema | ARPC1B deficiency | PMID:30771411 [P6(II.2)]; PMID:35767111 [P5] |
101671 | F | 212632![]() |
0 | Iranian | Skin rash | ARPC1B deficiency | PMID:30771411 [P7(IV.8)]; PMID:31710310 [Patient 2] |
101674 | F | 212632![]() |
0 | Iranian | Skin rash | ARPC1B deficiency | PMID:30771411 [Fam.P7:V.1(P8)] |
101687 | F | 212635![]() |
0 | Nepalese | Eczema | ARPC1B deficiency | PMID:30771411 [P12(II.1)] |
101690 | F | 212636![]() |
- | Jordanian | Cutaneous abscess | ARPC1B deficiency | PMID:30771411 [P13(IV.5)] |
101693 | M | 212637![]() |
- | Nepalese | Eczema | ARPC1B deficiency | PMID:30771411 [P14(II.1)] |
101712 | M | 212643 | 10 | Jordanian | Dermatitis | Agammaglobulinemia 4 | PMID:25893637 [P1(II.6)] |
101723 | F | 210261![]() |
- | Asian | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.D:I.2(D.I.2)]; PMID:29729943 [Fam.D:I.2(D.I.2 (21))] |
101726 | M | 210182![]() |
- | Caucasian | Psoriasiform dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:II.3(B.II.2)]; PMID:29729943 [Fam.B:II.3(B.II.2 (14))] |
101748 | F | 210573 | - | Eczema | PMID:34975878 [Fam.F248:P248] | ||
101756 | F | 210025 | 8 | North American | Psoriasiform dermatitis | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.2(P13)]; PMID:26206937 [Fam.P1:II.2(P2)] |
101773 | M | 210876![]() |
- | German | Frequent skin infections | NFKB1 insufficiency | PMID:34975878 [Fam.F413:P413]; PMID:32278790 [Fam.BK:II.1(II.1)]; PMID:150198 [Fam.CC:II.1(405)]; PMID:36105815 [R57C/1] |
101791 | M | 210978 | - | Cutaneous abscess | PMID:34975878 [Fam.F255:P255] | ||
101797 | M | 211108 | - | Caucasian | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.QQ:II.1(97)]; PMID:34975878 [Fam.F258:P258] |
101800 | M | 215769![]() |
- | Caucasian | Frequent skin infections | NFKB1 insufficiency | PMID:34975878 [Fam.F259:P259]; PMID:32278790 [Fam.AT:III.2(III.2)]; PMID:150198 [Fam.BT:IV.1(319)]; PMID:31803180 [Fam.C:III.1(III.1)] |
101814 | F | 211527 | - | German | Eczema | NFKB1 insufficiency | PMID:34975878 [Fam.F274:P274]; PMID:32278790 [AK.I.1]; PMID:150198 [Fam.CP:435] |
101817 | F | 211536 | - | Acne vulgaris | PMID:34975878 [Fam.F279:P279] | ||
101830 | F | 212382 | - | Eczema | PMID:34390440 [NEG028] | ||
101834 | M | 212351 | - | German | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES41] |
101835 | F | 212354 | - | Cutaneous abscess | IL-17RA deficiency | Immunodeficiency 31C | PMID:34390440 [CMC07]; PMID:34390440 [CMC07] | |
101836 | M | 212346 | - | Eczema | PMID:34390440 [NEG029] | ||
101849 | F | 211636 | - | Eczema | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F311:P311] | |
101850 | M | 212198 | - | Eczema | PMID:34390440 [NEG032] | ||
101854 | M | 211650 | 74 | Erythroderma | PMID:34975878 [Fam.F316:P316] | ||
101855 | F | 211657 | - | Cutaneous abscess | PMID:34975878 [Fam.F317:P317] | ||
101866 | M | 210070 | - | Eczema | PMID:34390440 [NEG039] | ||
101875 | F | 210086 | - | Eczema | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34390440 [CMC19] | |
101880 | M | 212295 | - | Eczema | PMID:34390440 [NEG047] | ||
101884 | M | 212237![]() |
- | Sudanese | Eczema | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.3(A.II.3)] |
101892 | F | 212241 | - | Eczema | PMID:34390440 [NEG048] | ||
101895 | M | 212286 | - | Eczema | PMID:34390440 [NEG050] | ||
101896 | F | 212289 | - | Eczema | PMID:34390440 [NEG051] | ||
101903 | M | 212311 | - | Eczema | PMID:34390440 [NEG053] | ||
101905 | F | 212317 | - | Eczema | PMID:34390440 [NEG054] | ||
101907 | F | 212325 | - | Eczema | PMID:34390440 [NEG056] | ||
101908 | M | 212335 | - | Turkish | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES42] |
101924 | M | 210094 | - | German | Cutaneous abscess | Immunodeficiency 31C | PMID:34390440 [CMC05] |
101925 | M | 210095 | - | Indian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [CMC20]; PMID:28667753 [case] |
101926 | M | 210096 | - | Cutaneous abscess | PMID:34390440 [NEG062] | ||
101927 | M | 210097 | - | Eczema | Immunodeficiency 31C | PMID:34390440 [CMC10] | |
101943 | F | 210113 | - | Cutaneous abscess | PMID:34390440 [NEG075] | ||
101946 | F | 211943 | 58 | Psoriasiform dermatitis | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F406:P406] | |
101958 | F | 212666 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES40] | |
101961 | M | 212237![]() |
- | Sudanese | Eczema | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.1(A.II.1)] |
101962 | M | 212237![]() |
- | Sudanese | Eczema | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.2(A.II.2)] |
101963 | F | 213965 | - | Eczema | PMID:34390440 [NEG078] | ||
101964 | F | 213976 | - | Eczema | PMID:34390440 [NEG079] | ||
101970 | F | 214044 | - | Eczema | PMID:34390440 [NEG085] | ||
101971 | F | 214045 | - | Cutaneous abscess | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES43] | |
101973 | F | 214053![]() |
- | Turkish | Eczema | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.6(D.II.4)]; PMID:34390440 [HIES52] |
101974 | F | 214053![]() |
- | Turkish | Eczema | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.3(D.II.2)] |
101975 | F | 214053![]() |
- | Turkish | Eczema | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.2(D.II.1)]; PMID:34390440 [HIES53]; PMID:31980991 [Case] |
101979 | M | 214054 | - | Eczema | PMID:34390440 [NEG087] | ||
101980 | F | 214063 | - | Cutaneous abscess | PMID:34390440 [NEG088] | ||
101981 | F | 214064 | - | Eczema | PMID:34390440 [NEG089] | ||
101982 | F | 214072 | - | Omani | Eczema | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES06] |
101984 | F | 214091 | - | Eczema | PMID:34390440 [NEG091] | ||
101985 | F | 214094 | - | Eczema | PMID:34390440 [NEG092] | ||
101986 | M | 214100 | - | Egyptian | Eczema | PMID:34390440 [NEG093] | |
101987 | F | 214115 | - | Eczema | PMID:34390440 [NEG094] | ||
101989 | F | 214121 | - | Cutaneous abscess | PMID:34390440 [NEG096] | ||
101990 | F | 214122 | - | Cutaneous abscess | PMID:34390440 [NEG097] | ||
101991 | M | 214123 | - | Turkish | Eczema | Immunodeficiency 103, susceptibility to fungal infection | PMID:34390440 [HIES03] |
101992 | F | 214128 | - | Eczema | PMID:34390440 [NEG098] | ||
101993 | F | 214132 | - | Eczema | PMID:34390440 [NEG099] | ||
101994 | M | 214135 | - | Eczema | PMID:34390440 [NEG100] | ||
101995 | M | 214138 | - | Eczema | PMID:34390440 [NEG101] | ||
101996 | M | 214139 | - | Cutaneous abscess | PMID:34390440 [NEG102] | ||
101997 | F | 214140 | - | Eczema | PMID:34390440 [NEG103] | ||
101998 | M | 214141 | - | Cutaneous abscess | PMID:34390440 [NEG104] | ||
101999 | F | 214143 | - | Moroccan | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES38] |
102000 | M | 214144 | - | Cutaneous abscess | PMID:34390440 [NEG105] | ||
102002 | F | 214149 | - | Eczema | PMID:34390440 [NEG107] | ||
102003 | M | 214151 | - | Cutaneous abscess | PMID:34390440 [NEG108] | ||
102004 | F | 214153 | - | Moroccan | Eczema | PMID:34390440 [HIES01] | |
102005 | F | 214160 | - | Moroccan | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES39] |
102006 | F | 214161 | - | Cutaneous abscess | PMID:34390440 [NEG109] | ||
102008 | M | 214164 | - | Peruvian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES36] |
102010 | F | 214186 | - | Eczema | PMID:34390440 [NEG112] | ||
102011 | F | 214187 | - | Eczema | PMID:34390440 [NEG113] | ||
102013 | F | 214190 | - | Eczema | PMID:34390440 [NEG115] | ||
102014 | F | 214191 | - | Eczema | PMID:34390440 [NEG116] | ||
102015 | M | 214192 | - | Eczema | PMID:34390440 [NEG117] | ||
102023 | F | 214205 | - | Skin rash | PMID:34390440 [NEG125] | ||
102024 | F | 214206 | - | Eczema | PMID:34390440 [NEG126] | ||
102026 | F | 214214 | - | Iranian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES35] |
102027 | M | 214215 | - | Eczema | PMID:34390440 [NEG128] | ||
102029 | M | 214219 | - | Eczema | PMID:34390440 [NEG130] | ||
102030 | M | 214220 | - | Cutaneous abscess | PMID:34390440 [NEG131] | ||
102031 | M | 214221 | - | Eczema | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES07] | |
102032 | M | 214223 | - | Skin rash | PMID:34390440 [NEG132] | ||
102033 | M | 214226 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES33] | |
102035 | M | 214232 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES34] | |
102040 | M | 214250 | - | Eczema | PMID:34390440 [NEG138] | ||
102047 | M | 214258 | - | Eczema | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES13] | |
102052 | M | 214264 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES37] | |
102064 | F | 214284 | - | Qatari | Eczema | Netherton syndrome | PMID:34390440 [HIES30] |
102065 | M | 214285 | - | Egyptian | Eczema | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES23] |
102067 | M | 214287 | - | Colombian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES44] |
102074 | F | 214294 | - | Egyptian | Eczema | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES27]; PMID:32738296 [P2] |
102076 | M | 214296 | - | Egyptian | Eczema | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES24] |
102077 | F | 214297 | - | Egyptian | Eczema | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES10] |
102078 | M | 214298 | - | Egyptian | Eczema | PMID:34390440 [NEG164] | |
102079 | M | 214299 | - | Egyptian | Eczema | PMID:34390440 [NEG165] | |
102080 | M | 214300 | - | Egyptian | Eczema | PMID:34390440 [NEG166] | |
102081 | M | 214301 | - | Egyptian | Eczema | PMID:34390440 [NEG167] | |
102082 | U | 214302 | - | Egyptian | Skin rash | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES11] |
102083 | F | 214302 | - | Egyptian | Eczema | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [NEG168] |
102084 | M | 214303 | - | Egyptian | Eczema | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES02] |
102085 | M | 214304 | - | Egyptian | Eczema | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES12] |
102090 | M | 214309 | -,- | Dermatitis,Eczema | Immunodeficiency 58 | PMID:34390440 [HIES29] | |
102092 | F | 214311 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES48] | |
102096 | M | 214315 | - | Cutaneous abscess | PMID:34390440 [NEG177] | ||
102099 | M | 214318 | - | Eczema | PMID:34390440 [NEG180] | ||
102100 | F | 214319 | - | Eczema | PMID:34390440 [NEG181] | ||
102101 | M | 214320 | -,- | Turkish | Dermatitis,Eczema | Netherton syndrome | PMID:34390440 [HIES32] |
102105 | M | 214325 | - | Eczema | PMID:34390440 [NEG185] | ||
102107 | M | 214329 | - | Portuguese | Eczema | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES26] |
102109 | M | 214331 | - | Eczema | PMID:34390440 [NEG188] | ||
102116 | M | 212357 | - | Egyptian | Eczema | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES05] |
102117 | F | 214341 | - | Egyptian | Eczema | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES20] |
102118 | M | 214342 | - | Eczema | PMID:34390440 [NEG195] | ||
102119 | M | 214343 | - | Egyptian | Eczema | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES15] |
102120 | M | 214344 | - | Egyptian | Eczema | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES21] |
102121 | M | 214345 | - | Egyptian | Eczema | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES16] |
102122 | M | 214346 | - | Eczema | PMID:34390440 [NEG196] | ||
102123 | M | 214347 | - | Macedonian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES50] |
102124 | F | 214351![]() |
- | Sudanese | Eczema | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.5(B.II.4)] |
102129 | F | 214351![]() |
- | Sudanese | Eczema | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.1(B.II.1)] |
102131 | F | 214351![]() |
- | Sudanese | Eczema | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.7(B.II.6)] |
102133 | M | 214352![]() |
- | Sudanese | Eczema | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.C:II.1(C.II.1)] |
102134 | M | 214352![]() |
- | Sudanese | Eczema | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.C:II.6(C.II.6)] |
102138 | M | 214393![]() |
- | North American | Psoriasiform dermatitis | Immunodeficiency, common variable, 14 | PMID:27016798 [Fam.Patient:II.2(F)]; PMID:37876937 [Fam.A:II.1(A.3)] |
102144 | M | 214565 | - | Iranian | Eczema | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES54] |
102155 | U | 214597 | - | Italian | Skin rash | Familial Cold Autoinflammatory Syndrome 2 | PMID:21538323 [P2] |
102175 | M | 210725![]() |
- | Caucasian | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)] |
102180 | F | 214912 | - | Chinese (China) | Erythroderma | Severe combined immunodeficiency 9A, T-B- | PMID:26476733 [P7] |
102182 | F | 214681 | - | Caucasian | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:III.1(46)] |
102207 | M | 214915![]() |
- | Cutaneous abscess | Tubulointerstitial kidney disease type 5 | PMID:27392076 [Fam.2:II.2(II:2)] | |
102209 | F | 214915![]() |
0 | Cutaneous abscess | Tubulointerstitial kidney disease type 5 | PMID:27392076 [Fam.2:III.1(III:1)] | |
102216 | F | 214916![]() |
0 | Belgian | Cutaneous abscess | Severe congenital neutropenia 11 | PMID:32325141 [Patient(II.1)] |
102222 | M | 214917 | 0 | German | Psoriasiform dermatitis | NFKB1 insufficiency | PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C] |
102239 | F | 214923![]() |
2 | Brasilian | Eczema | ARPC1B deficiency | GRID:000604 [case(II.2)]; PMID:37349293 [Fam.B:II.1(Patient)] |
102245 | M | 214924![]() |
- | Afghanistani | Eczema | ARPC1B deficiency | PMID:33679784 [Fam.II-6:II.1(II-1)] |
102250 | M | 214924![]() |
1 | Afghanistani | Eczema | ARPC1B deficiency | PMID:33679784 [II-6(II.6)]; PMID:35767111 [P7] |
102258 | M | 214926![]() |
0 | Mexican | Eczema | ARPC1B deficiency | PMID:32683750 [case(II.3)]; PMID:36708766 [Fam.A:II.3(P2)] |
102260 | F | 214926![]() |
0 | Mexican | Eczema | ARPC1B deficiency | PMID:32683750 [Fam.case:II.2(sister)]; PMID:36708766 [Fam.A:II.2(P1)] |
102262 | F | 214927![]() |
- | Japanese | Skin rash | OAS1 immunodeficiency | PMID:29455859 [Fam.C:II.1]; PMID:34145065 [P5(II.1)]; PMID:29185156 [P2] |
102270 | F | 214928![]() |
0 | Japanese | Skin rash | OAS1 immunodeficiency | PMID:29455859 [Fam.A:II.4] |
102274 | F | 214929![]() |
- | German | Skin rash | OAS1 immunodeficiency | PMID:34145065 [P1(II.2)] |
102277 | M | 214930![]() |
- | North American | Skin rash | OAS1 immunodeficiency | PMID:34145065 [P2(II.1)] |
102281 | M | 214931![]() |
- | North American | Skin rash | OAS1 immunodeficiency | PMID:34145065 [P3(II.2)] |
102285 | F | 214932![]() |
- | North American | Skin rash | OAS1 immunodeficiency | PMID:34145065 [P4(II.2)] |
102288 | M | 214933![]() |
- | Italian | Skin rash | OAS1 immunodeficiency | PMID:34145065 [P6(II.1)] |
102357 | M | 214937![]() |
- | German | Skin rash | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.A:II.1(P1)] |
102374 | M | 214944![]() |
- | Saudi | Erythroderma | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:V.I(P7)] |
102396 | F | 214944![]() |
- | Saudi | Erythroderma | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:IV.4(P5)] |
102397 | F | 214944![]() |
0 | Saudi | Eczema | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:IV.5(P6)] |
102410 | F | 214947![]() |
2 | South Asian | Eczema | Hyper-IgE recurrent infection syndrome 4B | PMID:28747427 [Fam.A:II.3(P1)] |
102417 | F | 214946![]() |
1 | Dutch | Eczema | Stuve-Wiedemann syndrome 2 | PMID:31914175 [Fam.C:II.3] |
102423 | M | 214949![]() |
- | French/Greek | Frequent skin infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.A:I.2(P1)] |
102436 | F | 214956![]() |
- | Bulgarian | Frequent skin infections | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.C:III.1(P7)] |
102439 | M | 214956![]() |
- | Bulgarian | Cutaneous abscess | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.C:II.2(P6)] |
102444 | M | 214957![]() |
- | Slovak | Cutaneous abscess | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.D:II.3(P8)] |
102453 | F | 214959![]() |
0 | Turkish | Cutaneous abscess | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.F:II.2(P10)] |
102463 | M | 214961![]() |
- | European | Cutaneous abscess | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.H:II.1(P12)] |
102477 | M | 214964![]() |
- | Turkish | Eczema | Hyper-IgE recurrent infection syndrome 4B | PMID:30309848 [Patient(III.5)] |
102648 | M | 214975![]() |
- | Czech | erythema nodosum | Immunodeficiency 98 with autoinflammation | PMID:34981838 [Fam.1:II.1(Patient A)] |
102649 | M | 214975![]() |
- | Czech | erythema nodosum | Immunodeficiency 98 with autoinflammation | PMID:34981838 [Fam.1:II.2(Patient B)] |
102677 | M | 214980![]() |
16 | Pakistani | Frequent skin infections | JAK1 deficiency | PMID:28008925 [Patient(II.4)] |
102769 | M | 214985![]() |
- | Moroccan | Frequent skin infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.A:II.2(P2)] |
102772 | M | 214985![]() |
- | Moroccan | Frequent skin infections | PMID:29907691 [Fam.A:II.1(P1)] | |
102774 | F | 214985![]() |
- | Moroccan | Frequent skin infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.A:II.4(P3)] |
102775 | F | 214986![]() |
- | Afro-Caribbean | Erysipelas | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.B:II.5(P4)] |
102786 | F | 214988![]() |
- | Turkish | Frequent skin infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.D:II.1(P6)] |
102792 | M | 214989![]() |
- | Turkish | Frequent skin infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.E:II.1(P7)] |
102796 | M | 214990![]() |
- | Lebanese | Frequent skin infections | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.F:II.5(P8)] |
102865 | F | 214996![]() |
- | Italian | Psoriasiform dermatitis | ARPC1B deficiency | Hartnup disease | PMID:35967303 [PtII-1(II.1)]; PMID:35967303 [PtII-1(II.1)] |
102871 | F | 215001![]() |
0 | Italian | Erythroderma | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:8911612 [A.D.]; PMID:10206641 [Patient(II.2)]; PMID:33464451 [P1(II.2)]; PMID:28077132 [Fam.1:II.2(P1)] |
102875 | F | 215001![]() |
0 | Italian | Erythroderma | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:8911612 [G.D.]; PMID:10206641 [Fam.Patient:II.3]; PMID:33464451 [Fam.P1:II.3(P2)]; PMID:28077132 [Fam.1:II.3(P2)]; PMID:11159512 [Patient] |
102881 | F | 215003![]() |
0 | Portuguese | Erythroderma | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:20978268 [Fam.1:II.1(P1)]; PMID:33464451 [P3]; PMID:28077132 [P7]; PMID:22590644 [Patient(II.1)] |
102887 | F | 215005![]() |
0 | Lebanese | Skin rash | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:25173801 [Patient(II.1)]; PMID:33464451 [P5]; PMID:28077132 [P9] |
102900 | F | 215007![]() |
- | Turkish | Erythroderma | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:30903456 [Fam.P1:II.2(P2)]; PMID:33464451 [Fam.P12:II.2(P13)]; PMID:37419334 [P13(27)] |
102916 | F | 215017 | - | Skin rash | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P5]; PMID:37419334 [P5(22)] | |
102923 | F | 215024 | - | Eczema | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P12] | |
102933 | M | 215034 | - | Skin rash | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P22]; PMID:37419334 [P22(22)] | |
102942 | F | 215041 | - | Italian | Eczema | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P33]; PMID:37419334 [P33(22)] |
102943 | F | 215042 | - | Italian | Eczema | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P34]; PMID:37419334 [P34(22)] |
102946 | F | 215045 | - | Italian | Eczema | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P37]; PMID:37419334 [P37(22)] |
102955 | M | 215054 | - | Italian | Eczema | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P46]; PMID:37419334 [P46(22)] |
102984 | F | 215074![]() |
- | European/American | Eczema | Immunodeficiency 97 | PMID:31554793 [A.1(II.1)] |
102990 | F | 215076![]() |
- | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 1] | |
102993 | F | 215077![]() |
- | Turkish | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 2] |
102996 | M | 215078![]() |
- | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 3] | |
102999 | M | 215079![]() |
- | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 4] | |
103002 | F | 215080![]() |
- | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 5] | |
103008 | M | 215081![]() |
- | North American | Acne vulgaris | PMID:23861857 [Fam.Patient:II.2] | |
103009 | F | 215082![]() |
- | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 6] | |
103012 | M | 215083![]() |
- | Turkish | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 7] |
103015 | M | 215084![]() |
- | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 8] | |
103018 | M | 215085![]() |
- | Japanese | Eczema | Immunodeficiency 35 | PMID:17676033 [Tyk2 Pt]; PMID:17088085 [Patient] |
103021 | F | 215086![]() |
- | Gypsy | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.1:II.2(C1)] |
103025 | M | 215086![]() |
- | Gypsy | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.1:III.1(C2)] |
103026 | M | 215086![]() |
- | Gypsy | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.1:III.2(C3)] |
103027 | F | 215087![]() |
- | Hungarian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN133]; PMID:18706697 [Fam.2:I.2(N1)] |
103029 | F | 215087![]() |
- | Hungarian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.2:II.1(N2)] |
103031 | M | 215088 | - | Hungarian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN134]; PMID:18706697 [Fam.3:K] |
103032 | M | 215089![]() |
- | Hungarian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.4:II.1(S1)] |
103038 | F | 215091 | - | Lebanese | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.6:F1] |
103039 | M | 215092![]() |
- | Lebanese | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.7:II.1(CA1)] |
103043 | F | 215093 | - | Polish | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.8:B] |
103044 | M | 215094 | - | Swedish | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.9:SW] |
103281 | F | 215111![]() |
0 | Chinese (China) | Skin rash | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.1:II.2(P1)] |
103288 | F | 215113![]() |
12 | Hungarian | Cutaneous abscess | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.3:II.1(P4)] |
103293 | M | 215115 | 44 | Cutaneous abscess | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [P6] | |
103473 | F | 215134![]() |
- | French | Eczema | Immunodeficiency 55 | PMID:28414293 [Fam.A:II.1(P1)]; PMID:14702466 [Fam.1:II.1(P1)] |
103477 | F | 215134![]() |
1 | French | Eczema | Immunodeficiency 55 | PMID:28414293 [Fam.A:II.3(P2)]; PMID:14702466 [Fam.1:II.3(P2)] |
103482 | F | 215136![]() |
9 | British | Folliculitis | Immunodeficiency 55 | PMID:28414293 [Fam.C:II.1(P4)] |
103485 | F | 215137![]() |
- | French | Eczema | Immunodeficiency 55 | PMID:28414293 [Fam.D:II.1(P5)] |
103529 | F | 215153![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J001:I.1(Proband)]; PMID:21288777 [Fam.1:I.2(Proband)] |
103531 | F | 215153![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J001:II.1(Daughter1)]; PMID:21288777 [Fam.1:II.1(Daughter)] |
103538 | F | 215155![]() |
0 | Mexican | Eczema | ARPC1B deficiency | PMID:36708766 [Fam.B:II.2(P3)] |
103541 | M | 215155![]() |
0 | Mexican | Eczema | ARPC1B deficiency | PMID:36708766 [Fam.B:II.1(P4)] |
103547 | M | 215157![]() |
- | Mexican | Eczema | ARPC1B deficiency | PMID:36708766 [Fam.D:II.4(P6)] |
103556 | F | 215158![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J002:III.1(Daughter)]; PMID:21288777 [Fam.2:III.1(Daughter)] |
103560 | M | 215158![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J002:II.2(Proband)]; PMID:21288777 [Fam.2:II.2(Proband)]; PMID:23584561 [T3-2] |
103563 | F | 215159![]() |
0 | Admixed | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J005:II.1(Proband)] |
103566 | F | 215160 | - | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J006:Proband]; PMID:28587312 [P14]; PMID:21288777 [F384S]; PMID:23584561 [T2-2] |
103567 | F | 215161![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J007:III.1(Daughter)]; PMID:28587312 [P40]; PMID:21288777 [Fam.3:III.1(Daughter)] |
103569 | F | 215161![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J007:II.1(Proband)]; PMID:21288777 [Fam.3:II.1(Proband)] |
103577 | F | 215163 | - | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J009:Proband]; PMID:21288777 [S611N] |
103584 | F | 215166![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J011:II.2(Proband)]; PMID:21288777 [Fam.4:II.2(Proband)] |
103587 | F | 215166![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J011:II.1(Sister)]; PMID:21288777 [Fam.4:II.1(sister)] |
103591 | F | 215168![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J014:II.1(Proband)]; PMID:28587312 [P34] |
103600 | M | 215170![]() |
- | Asian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J016:III.1(Son)]; PMID:21288777 [Fam.5:III.1(Son)] |
103604 | M | 215170![]() |
- | Asian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J016:II.2(Proband)]; PMID:21288777 [Fam.5:II.1(Proband)] |
103606 | F | 215170![]() |
- | Asian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J016:III.3(Daughter2)]; PMID:28587312 [P31]; PMID:21288777 [Fam.5:III.3(Daughter)] |
103607 | F | 215171![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J017:II.1(Proband)]; PMID:21288777 [Fam.6:II.1(Proband)] |
103612 | M | 215171![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J017:II.4(Brother2)]; PMID:28587312 [P32]; PMID:21288777 [Fam.6:II.4(brother)] |
103619 | F | 215174 | - | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J022:Proband]; PMID:28587312 [P9]; PMID:23584561 [T2-1] |
103622 | M | 215175![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J029:II.3(Proband)]; PMID:21288777 [Fam.7:II.3(Proband)] |
103626 | F | 215175![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J029:II.2(Sister2)]; PMID:21288777 [Fam.7:II.2(sister2)] |
103629 | F | 215175![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J029:III.2(Niece2)]; PMID:21288777 [Fam.7:III.2(niece)] |
103633 | F | 215177![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J035:II.1(Daughter)]; PMID:21288777 [Fam.12:II.1(daughter)] |
103635 | M | 215177![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J035:I.2(Proband)]; PMID:21288777 [Fam.12:I.1(proband)] |
103640 | M | 215179 | - | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J053:Proband]; PMID:21288777 [P639A] |
103641 | F | 215180 | - | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J054:Proband]; PMID:21288777 [S465A] |
103647 | F | 215182![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J074:II.1(Daughter)]; PMID:21288777 [Fam.8:II.1(proband)] |
103648 | F | 215182![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J074:I.1(Proband)]; PMID:21288777 [Fam.8:I.2(mother)]; PMID:23584561 [T3-1] |
103650 | F | 215182![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J074:II.2(Daughter2)]; PMID:21288777 [Fam.8:II.2(sister)] |
103655 | F | 215184![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J087:II.1(Daughter)]; PMID:21288777 [Fam.9:II.1(Daughter)] |
103656 | M | 215184![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J087:I.1(Proband)]; PMID:21288777 [Fam.9:I.1(proband)] |
103657 | M | 215185 | - | European/American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J088:Proband]; PMID:21288777 [R382L] |
103663 | F | 215187![]() |
- | Latino | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J100:Proband]; PMID:28587312 [P41]; PMID:21288777 [Fam.10:I.2(proband)]; PMID:23584561 [T3-11] |
103667 | M | 215188![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J112:I.1(Proband)]; PMID:21288777 [Fam.11:I.1(proband)]; PMID:23584561 [T3-7] |
103668 | M | 215189![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J113:II.1(Proband)]; PMID:28587312 [P53]; PMID:23584561 [T2-13] |
103671 | F | 215190 | - | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J121:Proband]; PMID:21288777 [Q644del]; PMID:23584561 [T2/3-8/10] |
103674 | F | 215191 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [Fam.1:II.1(P1.1)] | |
103675 | M | 215191 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [Fam.1:I.1(P1.2)] | |
103676 | F | 215193 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P2] | |
103677 | M | 215194 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P3] | |
103678 | M | 215195 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P4] | |
103679 | M | 215196![]() |
- | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P5] | |
103680 | M | 215197 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P6] | |
103681 | F | 215198![]() |
- | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [Fam.7:II.3(P7.1)]; PMID:17942886 [II-3(II.3)] |
103682 | M | 215198![]() |
- | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [Fam.7:III.3(P7.2)]; PMID:17942886 [Fam.II-3:III.3(III-3)] |
103683 | M | 215198![]() |
- | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [Fam.7:IV.1(P7.3)]; PMID:17942886 [Fam.II-3:IV.1(IV-1)] |
103684 | M | 215201![]() |
- | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P8] | |
103685 | M | 215202![]() |
- | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P9] | |
103686 | M | 215203![]() |
- | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P10] | |
103687 | M | 215204![]() |
- | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P11] | |
103688 | M | 215205 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P12] | |
103689 | M | 215206 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P13] | |
103690 | M | 215207 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P14] | |
103691 | M | 215208 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P15] | |
103692 | M | 215209 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P16] | |
103693 | F | 215210 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P17] | |
103694 | M | 215211 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P18] | |
103695 | M | 215212![]() |
- | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P19] | |
103696 | F | 215213![]() |
- | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P20] | |
103697 | M | 215214![]() |
- | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P21] | |
103698 | M | 215215![]() |
- | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P22] | |
103699 | M | 215216![]() |
- | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P23] | |
103700 | F | 215217 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P24] | |
103701 | M | 215218![]() |
- | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P25] | |
103702 | M | 215219 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P26] | |
103703 | F | 215220![]() |
- | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P27] | |
103704 | M | 215221![]() |
- | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P28] | |
103705 | M | 215222 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P29] | |
103706 | F | 215223 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P30] | |
103707 | M | 215224![]() |
- | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P31] | |
103708 | M | 215225 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P32] | |
103709 | M | 215226 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P33] | |
103710 | F | 215227 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:18602572 [P34] | |
103715 | M | 215228 | - | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J012:Proband]; PMID:28587312 [P25] |
103716 | M | 215229 | - | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J013:Proband]; PMID:21288777 [F384L] |
103717 | F | 215230 | - | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J015:Proband]; PMID:28587312 [P18]; PMID:21288777 [F621V] |
103732 | M | 215232![]() |
16 | Georgian Jewish | Skin rash | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.A:III.4(A-III-4)] |
103733 | F | 215233![]() |
4 | Georgian Jewish | erythema nodosum | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.B:III.1(B-III-1)] |
103759 | M | 215235![]() |
- | Georgian Jewish | Skin rash | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.D:III.3(D-III-3)] |
103780 | M | 215237![]() |
1 | German | erythema nodosum | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.F:II.3(F-II-3)] |
103792 | F | 215243![]() |
- | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.1:III.3(1-2)] |
103798 | M | 215243![]() |
- | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.1:II.4(1-1)] |
103802 | F | 215243![]() |
- | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.1:III.4(1-3)] |
103803 | M | 215244 | - | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [2-1] |
103804 | M | 215245![]() |
- | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.3:II.10(3-1)] |
103805 | F | 215246 | - | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [4-1] |
103806 | M | 215247 | - | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [5-1] |
103807 | M | 215248![]() |
- | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.6:III.1(6-2)] |
103808 | F | 215248![]() |
- | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.6:II.3(6-1)] |
103810 | F | 215249![]() |
- | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.7:III.4(7-3)] |
103811 | F | 215249![]() |
- | North American | Eczema | PMID:20093388 [Fam.7:II.5] | |
103812 | M | 215249![]() |
- | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.7:II.4(7-1)] |
103813 | F | 215249![]() |
- | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.7:III.3(7-2)] |
103814 | M | 215250 | - | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [8-1] |
103816 | F | 215252![]() |
- | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.10:II.1(10-2)] |
103817 | F | 215252![]() |
- | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20093388 [Fam.10:I.1(10-1)] |
103819 | F | 215253 | 2 | Turkish | Skin rash | Adenosine deaminase 2 deficiency | PMID:24737293 [case] |
103827 | M | 215255![]() |
3 | Pakistani | Skin rash | Adenosine deaminase 2 deficiency | PMID:25278816 [Fam.F750:II.1(P2)] |
103830 | F | 215256![]() |
- | European | Neutrophilic infiltration of the skin | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.1:II.2(P1)] |
103834 | F | 215257![]() |
- | European | Neutrophilic infiltration of the skin | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.2:II.3(P2)] |
103839 | M | 215258![]() |
- | European | Neutrophilic infiltration of the skin | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.3:II.3(P3)] |
103844 | F | 215259![]() |
- | European | Neutrophilic infiltration of the skin | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.4:II.2(P4)] |
103848 | M | 215260![]() |
- | European | Neutrophilic infiltration of the skin | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.5:II.1(P5)] |
103855 | F | 215262![]() |
- | Turkish | erythema nodosum | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.7:II.1(P7)]; PMID:26233953 [Fam.F2:II.2(P2)] |
103858 | M | 215262![]() |
- | Turkish | erythema nodosum | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.7:II.2(P8)]; PMID:26233953 [Fam.F2:II.1(P3)] |
103859 | M | 215263![]() |
- | Turkish | erythema nodosum | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.8:II.1(P9)]; PMID:26233953 [Fam.F4:P5] |
103877 | F | 215266![]() |
- | Finnish | Eczema | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P2]; PMID:25349174 [Fam.2:II.2(Patient 2)]; PMID:35677041 [Pt2] |
103878 | M | 215267![]() |
- | Finnish | Eczema | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P3] |
103879 | M | 215268![]() |
- | Finnish | Eczema | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P4] |
103880 | F | 215269![]() |
2,2 | Finnish | Dermatitis,Erythroderma | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
103914 | F | 215270 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K1:P1] |
103916 | M | 215271 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K2:P2] |
103917 | F | 215272![]() |
-,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K3:II.2(P4)] |
103918 | M | 215272![]() |
-,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K3:I.1(P3)] |
103921 | F | 215273 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K4:P5] |
103922 | F | 215274 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K5:P6] |
103923 | M | 215275![]() |
-,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K6:II.1(P8)] |
103925 | F | 215275![]() |
-,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K6:I.2(P7)] |
103926 | F | 215276 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K7:P9] |
103927 | F | 215277 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K8:P10] |
103928 | M | 215278 | -,- | Algerian | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K9:P11] |
103929 | M | 215279 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K10:P12] |
103930 | F | 215280 | -,- | Moroccan | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K11:P13] |
103931 | M | 215281![]() |
-,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K12:II.2(P16)] |
103933 | F | 215281![]() |
-,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K12:I.2(P14)] |
103934 | F | 215281![]() |
-,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K12:II.1(P15)] |
103935 | F | 215282 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K13:P17] |
103936 | M | 215283 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K14:P18] |
103937 | F | 215284 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K15:P19] |
103938 | M | 215285 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K16:P20] |
103939 | F | 215286 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K17:P21] |
103940 | F | 215287![]() |
-,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K18:P22] |
103944 | M | 215287![]() |
-,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K18:II.2(P23)] |
103945 | M | 215289 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K19:P24] |
103946 | F | 215290 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K20:P25] |
103947 | F | 215291 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K21:P26] |
103948 | F | 215292 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K22:P27] |
103949 | M | 215293![]() |
-,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K23:II.2(P30)] |
103951 | M | 215293![]() |
-,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K23:I.2(P28)] |
103952 | M | 215293![]() |
-,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K23:II.1(P29)] |
103953 | F | 215294 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K24:P31] |
103954 | M | 215295 | -,- | Algerian | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K25:P32] |
103955 | F | 215296 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K26:P33] |
103956 | M | 215297 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K27:P34] |
103957 | M | 215298![]() |
- | French | Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K28:II.2(P59)] |
103958 | M | 215298![]() |
-,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K28:I.1(P35)] |
103961 | F | 215299 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K29:P36] |
103962 | F | 215300![]() |
-,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K30:II.1(P38)] |
103963 | M | 215300![]() |
-,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K30:I.1(P37)] |
103965 | F | 215301 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K31:P39] |
103966 | F | 215302 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K32:P40] |
103967 | M | 215303 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K33:P41] |
103968 | F | 215304 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K34:P42] |
103969 | F | 215305![]() |
-,- | Pakistani | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:II.2(P45)] |
103971 | F | 215305![]() |
-,- | Pakistani | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:I.2(P43)] |
103972 | M | 215305![]() |
-,- | Pakistani | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:II.1(P44)] |
103973 | M | 215306 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K36:P46] |
103974 | M | 215307 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K37:P47] |
103975 | F | 215308![]() |
- | French | Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K38:II.1(P49)] |
103977 | F | 215308![]() |
-,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K38:I.2(P48)] |
103978 | M | 215309 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K39:P50] |
103979 | M | 215310 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K40:P51] |
103980 | F | 215311 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K41:P52] |
103981 | M | 215312 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K42:P53] |
103982 | F | 215313 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K43:P54] |
103983 | M | 215314 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K44:P55] |
103984 | M | 215315 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K45:P56] |
103985 | M | 215316 | -,- | Portuguese | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K46:P57] |
103986 | M | 215317 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K47:P58] |
104052 | F | 215328![]() |
- | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN110]; GRID:000796 [UPN110(II.1)] |
104053 | M | 215329 | - | Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:19891924 [Patient] | |
104054 | F | 215330 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN70]; PMID:18835223 [UPN70]; GRID:000796 [UPN70] |
104055 | F | 215331 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN7]; PMID:18835223 [UPN7]; GRID:000796 [UPN7] |
104056 | M | 215332 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN114]; GRID:000796 [UPN114] |
104057 | M | 215333 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN86]; GRID:000796 [UPN86] |
104058 | F | 215334 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN17]; PMID:18835223 [UPN17]; GRID:000796 [UPN17] |
104059 | M | 215335 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN108]; GRID:000796 [UPN108] |
104060 | M | 215336 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN15]; PMID:18835223 [UPN15]; GRID:000796 [UPN15] |
104061 | M | 215337![]() |
- | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN19]; PMID:18835223 [UPN19]; GRID:000796 [UPN19(II.1)] |
104062 | F | 215338 | - | Colombian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN29]; PMID:18835223 [UPN29]; GRID:000796 [UPN29] |
104063 | M | 215339 | - | Colombian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN31]; PMID:18835223 [UPN31]; GRID:000796 [UPN31] |
104064 | M | 215340 | - | Middle Eastern | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN43]; GRID:000796 [UPN43] |
104065 | M | 215341 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN56]; GRID:000796 [UPN56] |
104066 | M | 215342 | - | Middle Eastern | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN63]; GRID:000796 [UPN63] |
104067 | M | 215343 | - | Middle Eastern | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN73]; GRID:000796 [UPN73] |
104068 | F | 215344 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN126]; GRID:000796 [UPN126] |
104069 | F | 215345 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN128]; GRID:000796 [UPN128] |
104070 | M | 215346 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN129]; GRID:000796 [UPN129] |
104073 | M | 215349 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN135]; GRID:000796 [UPN135] |
104074 | F | 215350 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN79]; PMID:18835223 [UPN79]; GRID:000796 [UPN79] |
104075 | M | 215351 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN98]; GRID:000796 [UPN98] |
104076 | F | 215352 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN25]; GRID:000796 [UPN25] |
104077 | F | 215353 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN37]; GRID:000796 [UPN37] |
104078 | M | 215354 | - | Middle Eastern | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN44]; GRID:000796 [UPN44] |
104079 | F | 215355 | - | Middle Eastern | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN47]; GRID:000796 [UPN47] |
104080 | M | 215356 | - | Middle Eastern | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN61]; GRID:000796 [UPN61] |
104081 | M | 215357 | - | Middle Eastern | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN72]; GRID:000796 [UPN72] |
104082 | M | 215358 | - | Middle Eastern | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN77]; GRID:000796 [UPN77] |
104083 | M | 215359 | - | Middle Eastern | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN92]; GRID:000796 [UPN92] |
104084 | F | 215360 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN95]; GRID:000796 [UPN95] |
104085 | F | 215361 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN6]; PMID:18835223 [UPN6]; GRID:000796 [UPN6] |
104086 | M | 215362![]() |
- | Middle Eastern | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN60]; GRID:000796 [UPN60(I.1)] |
104087 | M | 215363![]() |
- | Middle Eastern | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN65]; GRID:000796 [UPN65(II.2)] |
104088 | F | 215364 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN118]; GRID:000796 [UPN118] |
104089 | F | 215365 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN130]; GRID:000796 [UPN130] |
104090 | F | 215366 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN26]; GRID:000796 [UPN26] |
104091 | F | 215367![]() |
- | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN2]; PMID:18835223 [UPN2]; GRID:000796 [UPN2(II.4)] |
104092 | F | 215368 | - | Middle Eastern | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN46]; GRID:000796 [UPN46] |
104093 | M | 215369 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN102]; GRID:000796 [UPN102] |
104094 | M | 215370 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN36]; GRID:000796 [UPN36] |
104095 | F | 215371 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN57]; GRID:000796 [UPN57] |
104096 | M | 215372 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN5]; PMID:18835223 [UPN5]; GRID:000796 [UPN5] |
104097 | M | 215373 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN71]; PMID:18835223 [UPN71]; GRID:000796 [UPN71] |
104098 | F | 215374 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN16]; PMID:18835223 [UPN16]; GRID:000796 [UPN16] |
104099 | M | 215375 | - | Colombian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN32]; PMID:18835223 [UPN32]; GRID:000796 [UPN32] |
104100 | M | 215376 | - | Colombian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN33]; PMID:18835223 [UPN33]; GRID:000796 [UPN33] |
104101 | F | 215377 | - | Middle Eastern | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN42]; GRID:000796 [UPN42] |
104102 | M | 215378 | - | Middle Eastern | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN45]; GRID:000796 [UPN45] |
104103 | F | 215379 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN66]; GRID:000796 [UPN66] |
104104 | M | 215380 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN67]; GRID:000796 [UPN67] |
104105 | M | 215381![]() |
- | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN106]; GRID:000796 [Fam.UPN106:II.1] |
104106 | M | 215382 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN115]; GRID:000796 [UPN115] |
104107 | M | 215383 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN125]; GRID:000796 [UPN125] |
104108 | M | 215384 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN104]; GRID:000796 [UPN104] |
104109 | M | 215385 | - | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN49]; GRID:000796 [UPN49] |
104110 | F | 215386 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN109]; GRID:000796 [UPN109] |
104111 | M | 215387 | - | Latino | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN27]; GRID:000796 [UPN27] |
104112 | F | 215388 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN103]; GRID:000796 [UPN103] |
104113 | M | 215389 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN18]; PMID:18835223 [UPN18]; GRID:000796 [UPN18] |
104114 | M | 215390 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN116]; GRID:000796 [UPN116] |
104115 | M | 215391 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN96]; GRID:000796 [UPN96] |
104158 | M | 215393![]() |
- | Australian | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.B:II.2(P2)] |
104165 | M | 215394![]() |
-,- | Indian | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.C:II.4(P3)] |
104171 | M | 215395![]() |
- | Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.D:III.1(P5)] | |
104174 | M | 215395![]() |
- | Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.D:II.1(P4)] | |
104177 | M | 215396![]() |
-,- | Maori | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.E:I.1(P6)] |
104190 | F | 215399 | - | Latino | Eczema | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN30] |
104191 | F | 215400 | - | Middle Eastern | Eczema | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN136] |
104192 | F | 215401 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN143] |
104193 | M | 215402 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN147] |
104194 | M | 215403 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN151] |
104195 | M | 215404 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN152] |
104196 | M | 215405![]() |
- | European | Cutaneous abscess | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN153(I.1)] |
104199 | F | 215406 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN154] |
104200 | M | 215407 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN157] |
104201 | F | 215408 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN158] |
104202 | F | 215409 | - | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN159] |
104203 | F | 215410![]() |
- | European | Eczema | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN160(II.2)] |
104248 | M | 215424 | - | Afro-American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P10]; PMID:23584561 [T2-10] |
104250 | F | 215426 | - | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P15] |
104251 | M | 215427 | - | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P16]; PMID:35059947 [Patient 4] |
104252 | F | 215428 | - | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P17]; PMID:21288777 [S668F] |
104254 | F | 215430 | - | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P19] |
104255 | M | 215431 | - | Afro-American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P20]; PMID:32768442 [Patient 5] |
104256 | F | 215432 | - | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P21]; PMID:31493539 [P5] |
104258 | M | 215434 | - | Afro-American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P26]; PMID:23584561 [T2-16] |
104261 | M | 215437 | - | Asian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P33] |
104263 | F | 215439 | - | Afro-American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P36]; PMID:23584561 [T2-17] |
104264 | F | 215440 | - | North American | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:28587312 [P39] |
104268 | M | 215444![]() |
- | Ashkenazi Jewish | Psoriasiform dermatitis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28153428 [Patient(II.2)] |
104296 | M | 215449![]() |
- | Chinese (China) | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:21107604 [Case(II.1)] |
104300 | F | 215450![]() |
- | Greek | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:20149460 [Patient] |
104307 | F | 215451![]() |
- | North American | Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:19483664 [Patient(II.1)]; PMID:26292779 [Co2] |
104308 | M | 215451![]() |
- | North American | Cutaneous abscess | Hyper-IgE recurrent infection syndrome 1 | PMID:19483664 [Fam.Patient:I.1] |
104311 | M | 215452 | - | Australian | Cutaneous abscess | Hyper-IgE recurrent infection syndrome 1 | PMID:18591410 [HIES1] |
104312 | M | 215453 | - | Australian | Cutaneous abscess | Hyper-IgE recurrent infection syndrome 1 | PMID:18591410 [HIES2] |
104313 | M | 215454 | - | Australian | Cutaneous abscess | Hyper-IgE recurrent infection syndrome 1 | PMID:18591410 [HIES3] |
104314 | F | 215455![]() |
- | Australian | Cutaneous abscess | Hyper-IgE recurrent infection syndrome 1 | PMID:18591410 [HIES4] |
104315 | F | 215456 | - | Australian | Cutaneous abscess | Hyper-IgE recurrent infection syndrome 1 | PMID:18591410 [HIES5] |
104332 | F | 215471 | - | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [W479C]; PMID:23584561 [T3-17]; PMID:26292779 [H3] |
104336 | F | 215475 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [N472D]; PMID:23584561 [T2-9] | |
104340 | M | 215479 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [V637M]; PMID:23584561 [T2-15] | |
104349 | M | 215488 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [del371-380]; PMID:23584561 [T3-14] | |
104352 | F | 215491 | 13,- | Caucasian | Frequent skin infections ,Increased inflammatory response | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [H2] |
104353 | M | 215492 | - | Asian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [Cr1] |
104354 | F | 215493 | - | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [Co1] |
104355 | M | 215494 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:26292779 [H8]; PMID:22126402 [case] | |
104356 | M | 215495 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P1] |
104357 | M | 215496 | -,- | French | Dermatitis,Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P2] |
104358 | F | 215497 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P3] |
104359 | F | 215498 | -,- | French Caribbean | Dermatitis,Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P4] |
104360 | M | 215499 | -,- | French Caribbean | Dermatitis,Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P5] |
104361 | M | 215500 | -,- | French | Dermatitis,Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P6] |
104362 | F | 215501 | -,- | Pakistani | Dermatitis,Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P7] |
104363 | M | 215502 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P8] |
104364 | F | 215503 | -,- | French | Dermatitis,Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P9] |
104365 | F | 215504 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P10] |
104366 | M | 215505 | - | French | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P11] |
104367 | F | 215506 | -,- | Moroccan | Dermatitis,Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P12] |
104368 | F | 215507 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P13] |
104369 | F | 215508 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [V343F] | |
104370 | M | 215509 | -,- | Algerian | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P14] |
104371 | M | 215510 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P15] |
104372 | M | 215511 | -,- | French | Dermatitis,Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P16] |
104373 | F | 215512 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P17] |
104374 | F | 215513 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P18] |
104375 | M | 215514 | -,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P19] |
104376 | M | 215515 | -,- | French | Dermatitis,Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P20] |
104377 | M | 215516 | -,- | French | Dermatitis,Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P21] |
104379 | M | 215187![]() |
- | Latino | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [Fam.10:II.1(son)] |
104383 | M | 215517![]() |
- | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [Fam.13:II.1(proband)] | |
104385 | F | 215517![]() |
- | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:21288777 [Fam.13:I.2(mother)] | |
104386 | M | 215518![]() |
- | Ivorian | Cutaneous abscess | Hyper-IgE recurrent infection syndrome 3 | PMID:37080116 [P19(II.1)] |
104389 | M | 215519![]() |
- | Algerian | Cutaneous abscess | Hyper-IgE recurrent infection syndrome 3 | PMID:37080116 [P20(II.1)] |
104392 | F | 215520![]() |
- | French | Increased inflammatory response | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36122175 [Patient] |
104406 | M | 215524![]() |
3 | Asian | Eczema | Early-onset atopic inflammation | PMID:36216080 [Fam.Index:II.1(father)] |
104410 | M | 215525![]() |
0 | Japanese | Eczema | Early-onset atopic inflammation | PMID:36538978 [Patient(II.2)] |
104414 | M | 215526![]() |
- | Turkish | Eczema | Early-onset atopic inflammation | PMID:36758835 [Patient(V.3)] |
104438 | F | 215527![]() |
- | Middle Eastern | Eczema | Early-onset atopic inflammation | PMID:36884218 [Fam.A:II.1(P1)] |
104444 | F | 215528![]() |
- | Spanish | Eczema | Early-onset atopic inflammation | PMID:36884218 [Fam.B:II.2(P2)] |
104461 | M | 215532![]() |
0 | European | Eczema | Early-onset atopic inflammation | PMID:36884218 [Fam.F:II.1(P8)]; PMID:37316763 [Patient(II.1)] |
104465 | M | 215533![]() |
20 | Eczema | Early-onset atopic inflammation | PMID:36884218 [Fam.G:II.1(P10)] | |
104473 | M | 215534![]() |
0 | South Asian | Skin rash | Early-onset atopic inflammation | PMID:36884218 [Fam.H:II.1(P11)] |
104481 | M | 215536![]() |
- | Caucasian | Eczema | Early-onset atopic inflammation | PMID:36884218 [Fam.J:IV.2(P14)] |
104488 | F | 215536![]() |
34 | Caucasian | Cutaneous abscess | Early-onset atopic inflammation | PMID:36884218 [Fam.J:III.2(P13)] |
104519 | F | 215537 | - | Gypsy | Eczema | ARPC1B deficiency | PMID:31379835 [P1] |
104520 | M | 215537 | - | Gypsy | Eczema | ARPC1B deficiency | PMID:31379835 [Fam.P1:II.2(P2)] |
104521 | F | 215538 | - | Gypsy | Eczema | ARPC1B deficiency | PMID:31379835 [P3] |
104522 | F | 215539 | 1 | Gypsy | Eczema | ARPC1B deficiency | PMID:31379835 [P4] |
104532 | M | 215544![]() |
- | Caucasian | Neutrophilic infiltration of the skin | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.A:II.1(Patient A)] |
104534 | M | 215546![]() |
- | Caucasian | Folliculitis | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.C:II.1(Patient C)] |
104554 | M | 215551![]() |
- | Pakistani | Skin rash | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27523608 [Fam.1:V.2(V:2)]; PMID:27559085 [Fam.1:V.2(P1)]; PMID:35587511 [Fam.G:II.2(4)]; PMID:34797715 [P1]; PMID:38914362 [Fam.A:V.2(023)] |
104568 | F | 215551![]() |
- | Pakistani | Skin rash | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27523608 [Fam.1:IV.3(IV:3)]; PMID:32231246 [IV:3(IV.3)]; PMID:27559085 [Fam.1:IV.1(P4)]; PMID:38914362 [Fam.A:V.6(027)] |
104570 | F | 215551![]() |
- | Pakistani | Skin rash | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27523608 [Fam.1:IV.4(IV:4)]; PMID:27559085 [Fam.1:IV.3(NA)]; PMID:38914362 [Fam.A:V.7(028)] |
104575 | F | 215552![]() |
0 | Turkish | Neutrophilic infiltration of the skin | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27559085 [Fam.2:II.1(P2)]; PMID:35587511 [Fam.I:II.2(4)]; PMID:34797715 [P2]; PMID:38914362 [Fam.B:II.1(035)] |
104580 | F | 215553![]() |
0 | Turkish | Skin rash | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27559085 [Fam.3:II.1(P3)]; PMID:35587511 [Fam.H:II.1(3)]; PMID:34797715 [P3]; PMID:38914362 [Fam.C:II.1(039)] |
104583 | F | 215554![]() |
1 | Arab | Neutrophilic infiltration of the skin | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:30804083 [Patient(III.2)]; PMID:35587511 [Fam.K:II.2(4)]; PMID:38914362 [Fam.D:IV.2(049)] |
104592 | F | 215555![]() |
0 | Iranian | Cutaneous abscess | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:30796585 [Patient(V.3)]; PMID:35587511 [Fam.J:II.3(5)]; PMID:38914362 [Fam.E:V.3(065)] |
104625 | M | 215559![]() |
- | Increased inflammatory response | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.B:II.2(P2)] | |
104630 | M | 215560![]() |
-,- | Dermatitis,Increased inflammatory response | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.C:II.2(P3)] | |
104661 | F | 215566![]() |
- | Belgian | Cutaneous abscess | Immunodeficiency 107 | PMID:35587511 [Fam.E:II.3(5)]; PMID:38914362 [Fam.K:II.3(099)] |
104671 | F | 215568![]() |
- | Lebanese | Eczema | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.1:II.1(P1)] |
104678 | F | 215569![]() |
0 | Iranian | Pustule | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.2:II.2(P2)] |
104715 | M | 215572![]() |
- | French | Eczema | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [V-1(V.1)] |
104771 | M | 215572![]() |
- | French | Eczema | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:IV.5] |
104773 | F | 215572![]() |
- | French | Neutrophilic infiltration of the skin | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:IV.7] |
104796 | M | 215577![]() |
- | Psoriasiform dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.D:II.4(D.II.1)]; PMID:27418640 [P5(4)] | |
104797 | M | 215577![]() |
- | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)] | |
104845 | F | 215579![]() |
- | European | Cutaneous abscess | NFKB1 insufficiency | PMID:32278790 [Fam.NZ:II.2(II.2)]; PMID:26279205 [Fam.NZ:II.2(II2)]; PMID:29403474 [Fam.NZ (5):II.2(II2)]; PMID:29806948 [Fam.NZ:II.2(II.2)]; PMID:30323807 [Fam.2:II.2(II.2)]; PMID:150198 [Fam.AC:II.2(109)] |
104846 | F | 215580 | 0 | Egyptian | Erythroderma | Omenn syndrome 2 | PMID:30307608 [1] |
104847 | M | 215581 | 0 | Egyptian | Erythroderma | Omenn syndrome 2 | PMID:30307608 [2] |
104848 | F | 215582 | 0 | Egyptian | Erythroderma | Omenn syndrome 2 | PMID:30307608 [3] |
104849 | F | 215583 | 0 | Egyptian | Erythroderma | Omenn syndrome 2 | PMID:30307608 [4] |
104850 | M | 215584 | 0 | Egyptian | Erythroderma | Omenn syndrome 2 | PMID:30307608 [5] |
104851 | M | 215585 | 0 | Egyptian | Erythroderma | Omenn syndrome 3 | PMID:30307608 [6] |
104855 | F | 215589 | 0 | Egyptian | Erythroderma | Omenn syndrome 3 | PMID:30307608 [7] |
104864 | F | 215598![]() |
- | Eczema | Immunodeficiency, common variable, 14 | PMID:33864888 [S125]; PMID:37876937 [Fam.B:II.1(B.1)] | |
104881 | F | 215608 | - | Egyptian | Skin rash | Severe combined immunodeficiency 10A, T-B+ | PMID:30307608 [27] |
104883 | F | 215610 | - | Egyptian | Skin rash | Combined cellular and humoral immune defects with granulomas 1 | PMID:30307608 [29] |
104885 | F | 215612 | - | Egyptian | Skin rash | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [31] |
104916 | M | 215613![]() |
- | Caucasian | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [G.III.2]; PMID:29729943 [Fam.G:III.2(G.III.2 (27))]; PMID:25367873 [Fam.1:III.5(III.5)] |
104953 | F | 215622![]() |
- | Dutch | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [Fam.NA:II.14(II.14)]; PMID:26279205 [Fam.NL1:II.18(16)]; PMID:29403474 [Fam.NL1 (5):II.18(16)]; PMID:11583829 [Fam.1:II.17(II:17)]; PMID:16639407 [Fam.1:II.18(16)]; PMID:150198 [Fam.AA:II.18(020)] |
104970 | M | 215622![]() |
- | Dutch | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.13(III.13)]; PMID:26279205 [Fam.NL1:III.12(34)]; PMID:29403474 [Fam.NL1 (5):III.12(34)]; PMID:11583829 [Fam.1:III.12(III:12)]; PMID:16639407 [Fam.1:III.12(34)]; PMID:150198 [Fam.AA:III.12(038)] |
104987 | F | 215622![]() |
- | Dutch | Folliculitis | NFKB1 insufficiency | PMID:32278790 [Fam.NA:IV.6(IV.6)]; PMID:26279205 [Fam.NL1:IV.6(48)]; PMID:29403474 [Fam.NL1 (5):IV.6(48)]; PMID:11583829 [Fam.1:IV.5(IV:5)]; PMID:16639407 [Fam.1:IV.5(48)]; PMID:150198 [Fam.AA:IV.6(062)] |
104989 | F | 215622![]() |
- | Dutch | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [Fam.NA:IV.7(IV.7)]; PMID:26279205 [Fam.NL1:IV.8(49)]; PMID:29403474 [Fam.NL1 (5):IV.8(49)]; PMID:11583829 [Fam.1:IV.6(IV:6)]; PMID:16639407 [Fam.1:IV.6(49)]; PMID:150198 [Fam.AA:IV.8(064)] |
105008 | F | 215622![]() |
- | Dutch | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.27(III.27)]; PMID:26279205 [Fam.NL1:III.29(42)]; PMID:29403474 [Fam.NL1 (5):III.29(42)]; PMID:11583829 [Fam.1:III.20(III:20)]; PMID:16639407 [Fam.1:III.20(42)]; PMID:150198 [Fam.AA:III.29(055)] |
105019 | M | 215624![]() |
-,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [P1(III.4)] |
105023 | M | 215624![]() |
-,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:II.2(P2)] |
105034 | F | 215628![]() |
- | Finnish | Eczema | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25349174 [Fam.3:II.1(Patient 3)] |
105043 | F | 215630![]() |
- | Caucasian | erythema nodosum | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P9(II.1)]; PMID:29729943 [Fam.BBB:II.1(BBB.II.1 (131))] |
105058 | F | 215624![]() |
-,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:II.3(P4)] |
105063 | F | 215624![]() |
-,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:III.2(P6)] |
105066 | F | 215624![]() |
-,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:III.6(P3)] |
105069 | M | 215624![]() |
-,- | French | Dermatitis,Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:IV.1(P5)] |
105102 | M | 215640![]() |
5 | European | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [Fam.A:III.3(III.3)]; PMID:29477724 [Fam.A:III.3(III:3)]; PMID:150198 [Fam.AU:III.3(236)]; PMID:32918165 [Fam.A:III.3(Index)] |
105112 | F | 215646 | - | Frequent skin infections | NFKB1 insufficiency | PMID:27379089 [P5]; PMID:32278790 [BM.I.5]; PMID:29403474 [Patient 5 (10)]; PMID:150198 [Fam.AJ:147] | |
105129 | M | 215647![]() |
- | Frequent skin infections | NFKB1 insufficiency | PMID:27379089 [Fam.1:c1(P1)]; PMID:32278790 [Fam.BA:II.1(II.1)]; PMID:29403474 [Fam.(10):c1(Patient 1)]; PMID:150198 [Fam.AG:IV.1(143)] | |
105130 | F | 215647![]() |
- | Frequent skin infections | NFKB1 insufficiency | PMID:27379089 [Fam.1:c2(P2)]; PMID:32278790 [Fam.BA:II.2(II.2)]; PMID:29403474 [Fam.(10):c2(Patient 2)]; PMID:150198 [Fam.AG:IV.2(144)] | |
105135 | F | 215649![]() |
0 | Moroccan | Skin rash | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:38914362 [Fam.M:II.1(107)] |
105142 | M | 210314![]() |
- | German | Psoriasiform dermatitis | NFKB1 insufficiency | PMID:32278790 [Fam.BF:II.1(II.1)]; PMID:29403474 [Fam.(13):II.2(Patient 3)]; PMID:27923702 [Fam.191:II.2(Patient 3)]; PMID:150198 [Fam.AO:II.3(165)] |
105143 | F | 215650 | - | German | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [X.I.1]; PMID:29403474 [Patient 7 (13)]; PMID:27923702 [Patient 7]; PMID:150198 [Fam.AP:168]; GRID:001142 [FR005] |
105152 | F | 215655![]() |
- | Spanish | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [V.I.1]; PMID:29403474 [Patient 26 (11)]; PMID:150198 [Fam.AK:I.2(149)]; PMID:27461466 [Fam.827_01:26] |
105162 | M | 215658![]() |
0 | Australian | Neutrophilic infiltration of the skin | Autoinflammation, panniculitis, and dermatosis syndrome 2 | PMID:38914362 [Fam.N:II.1(110)]; PMID:38630025 [Fam.1:II.1(Patient 1)] |
105172 | M | 215659 | - | Caucasian | Psoriasiform dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.T:II.1(T.II.1 (48))]; PMID:27102614 [Fam.A:II.1(1)] |
105175 | M | 215660 | - | Caucasian | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Q:II.1(Q.II.1 (44))]; PMID:27102614 [Fam.B:I.1(2)] |
105179 | F | 215661 | - | Caucasian | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:I.2(L.I.2 (34))]; PMID:27102614 [Fam.C:I.2(mother)] |
105180 | M | 215662 | - | Caucasian | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.S:II.1(S.II.1 (47))]; PMID:27102614 [Fam.D:II.1(5)] |
105190 | F | 215664 | 1 | Caucasian | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27102614 [Fam.F:II.1(7)] |
105209 | M | 215666![]() |
- | Finnish | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [Fam.F1:II.1(II.1)]; PMID:28115215 [Fam.1:II.1(F1.II-1)]; PMID:150198 [Fam.AQ:II.1(171)]; PMID:36356849 [Fam.6:II.1(F6:II:1)]; PMID:36105815 [Fam.H67R:II.1(H67R/1)] |
105212 | F | 215666![]() |
- | Finnish | erythema nodosum | NFKB1 insufficiency | PMID:32278790 [Fam.F1:II.4(II.4)]; PMID:29403474 [Fam.1 (9):II.4(F1.II-4)]; PMID:28115215 [Fam.1:II.4(F1.II-4)]; PMID:150198 [Fam.AQ:II.4(174)]; PMID:36356849 [Fam.6:II.4(F6:II:4)]; PMID:36105815 [Fam.H67R:II.4(H67R/2)] |
105219 | F | 215666![]() |
27 | Finnish | Increased inflammatory response | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.7(III.7)]; PMID:29403474 [Fam.1 (9):III.7(F1.III-7)]; PMID:28115215 [Fam.1:III.7(F1.III-7)]; PMID:150198 [Fam.AQ:III.7(181)]; PMID:36356849 [Fam.6:III.7(F6:III:7)]; PMID:36105815 [Fam.H67R:III.7(H67R/6)] |
105220 | F | 215666![]() |
- | Finnish | Skin rash | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.8(III.8)]; PMID:29403474 [Fam.1 (9):III.8(F1.III-8)]; PMID:28115215 [Fam.1:III.8(F1.III-8)]; PMID:150198 [Fam.AQ:III.8(182)]; PMID:36356849 [Fam.6:III.8(F6:III:8)]; PMID:36105815 [Fam.H67R:III.8(H67R/7)] |
105221 | M | 215666![]() |
1 | Finnish | Eczema | NFKB1 insufficiency | PMID:32278790 [Fam.F1:IV.2(IV.2)]; PMID:28115215 [Fam.1:IV.1(F1.IV-1)]; PMID:150198 [Fam.AQ:IV.1(183)]; PMID:36356849 [Fam.6:IV.1(F6:IV:1)]; PMID:36105815 [Fam.H67R:IV.1(H67R/8)] |
105231 | M | 215671![]() |
- | Finnish | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [Fam.F2:III.2(III.2)]; PMID:29403474 [Fam.2 (9):III.2(F2.III-2)]; PMID:28115215 [Fam.2:III.2(F2.III-2)]; PMID:150198 [Fam.AR:III.2(193)]; PMID:36356849 [Fam.5:III.2(F5:III:2)] |
105238 | M | 215672![]() |
- | Finnish | Erysipelas | NFKB1 insufficiency | PMID:32278790 [Fam.F3:II.5(II.5)]; PMID:29403474 [Fam.3 (9):II.5(F3.II-5)]; PMID:28115215 [Fam.3:II.5(F3.II-5)]; PMID:150198 [Fam.AS:II.9(204)]; PMID:36356849 [Fam.3:II.9(F3:II:9)]; PMID:36892687 [II:5(II.5)]; PMID:38593810 [Fam.1:II.9(F1.II-5)] |
105246 | M | 215674![]() |
- | Caucasian | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [Fam.AN:III.2(III.1)]; PMID:29403474 [Fam.(12):II.1(P9.2)]; PMID:28983403 [Fam.1:II.1(P9.2)]; PMID:150198 [Fam.AT:III.2(226)] |
105272 | M | 215681 | - | Saudi | Psoriasiform dermatitis | Immunodeficiency, common variable, 8 | PMID:28134088 [P1(II.1)] |
105276 | F | 215684![]() |
1 | Saudi | Neutrophilic infiltration of the skin | Autoinflammation, panniculitis, and dermatosis syndrome 2 | PMID:38914362 [Fam.O:II.1(113)]; PMID:38630025 [Fam.2:II.1(Patient 2)] |
105302 | M | 215686![]() |
- | European | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [Fam.C:II.5(II.5)]; PMID:29477724 [Fam.C:II.5(II:5)]; PMID:150198 [Fam.AW:II.5(251)] |
105314 | F | 215689 | - | European | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [F.II.1]; PMID:29477724 [Fam.F:II.1(II:1)]; PMID:150198 [Fam.AZ:265]; PMID:36105815 [V98D] |
105332 | U | 215694 | - | European | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [M.II.1]; PMID:29477724 [Fam.M:II.1(II:1)]; PMID:150198 [Fam.BG:285] |
105337 | U | 215699 | - | European | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [I.II.1]; PMID:29477724 [Fam.I:II.1(I:II-1)]; PMID:150198 [Fam.BC:268] |
105351 | M | 215713 | - | Saudi | Psoriasiform dermatitis | Immunodeficiency, common variable, 8 | PMID:28831385 [PD] |
105357 | M | 215719 | 9 | Dermatitis | Immunodeficiency, common variable, 8 | PMID:29804237 [P1] | |
105363 | F | 215722 | - | Afro-American | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.X:II.1(X.II.1 (59))]; PMID:28366794 [Fam.A:II.1(P1)] |
105370 | F | 215725 | - | Caucasian | Psoriasiform dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Z:III.1(Z.III.1 (67))]; PMID:27577878 [Fam.B:II.1(15.1)] |
105412 | F | 215762![]() |
- | Caucasian | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [Fam.BB:I.1(I.1)]; PMID:30063981 [Fam.1:II.2(II.2)]; PMID:150198 [Fam.BM:II.3(300)] |
105413 | F | 215763![]() |
31 | Neutrophilic infiltration of the skin | Immunodeficiency 107 | PMID:38914362 [Fam.P:II.1(116)]; PMID:38129331 [case(II.1)] | |
105424 | M | 215766![]() |
- | Admixed | Eczema | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.F:II.1(P8)]; PMID:25457153 [Fam.1:II.2(P1)]; PMID:25075846 [Fam.1:II.2(older-sib)] |
105450 | F | 215770![]() |
- | Caucasian | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [BI.I.1]; PMID:150198 [Fam.BU:II.1(337)]; PMID:31803180 [Fam.D:II.1(S7)]; PMID:34619682 [P.150] |
105475 | F | 215776![]() |
20 | European | Eczema | Ezrin immunodeficiency | PMID:37301410 [P1(II.4)] |
105488 | M | 215781 | - | Frequent skin infections | Hyper-IgE recurrent infection syndrome 1 | PMID:28983403 [P2] | |
105489 | F | 215782 | - | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:28983403 [P3] | |
105543 | M | 215797 | - | Psoriasiform dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:28983403 [P7] | |
105549 | F | 215801 | - | Caucasian | Skin rash | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29200144 [Fam.A:IV.1(P1)] |
105591 | F | 215821 | - | Caucasian | Eczema | Activated p110-delta syndrome 1 | PMID:24610295 [Fam.2:II.1(F2P2)] |
105627 | F | 215822 | - | Caucasian | Eczema | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:III.2(P4)] |
105628 | F | 215822 | 1 | Caucasian | Eczema | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:III.3(P5)] |
105659 | F | 215836 | - | Eczema | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.2(Sibling 2)] | |
105676 | M | 215838![]() |
- | Ecuadorian | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [Fam.AS:II.1(II.1)]; PMID:150198 [Fam.CB:II.1(402)] |
105679 | M | 215839![]() |
- | Caucasian | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [Fam.BH:II.2(II.2)]; PMID:150198 [Fam.CD:II.1(409)] |
105687 | F | 215840![]() |
- | Caucasian | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [Fam.BL:I.1(I.1)]; PMID:150198 [Fam.CE:I.2(416)]; PMID:36105815 [Fam.H67Y:I.2(H67Y/1)] |
105714 | M | 211370![]() |
- | Turkish | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [Fam.AJ:III.1(III.1)]; PMID:150198 [Fam.BZ:III.1(380)]; GRID:001142 [Fam.*:III.1(FR095)] |
105731 | F | 215843 | - | Russian | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [Q.I.1]; PMID:150198 [Fam.CH:424] |
105740 | U | 215845 | - | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [R.I.1]; PMID:150198 [Fam.CI:425] | |
105742 | F | 215847 | - | Brasilian | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [AD.I.1]; PMID:150198 [Fam.CL:428] |
105746 | M | 215851![]() |
14 | Finnish | Acne vulgaris | Immunodeficiency, common variable, 14 | PMID:34451894 [Patient(II.2)]; PMID:37876937 [Fam.C:II.2(C.1)] |
105748 | M | 215852![]() |
- | Dutch | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [Fam.AM:I.1(I.1)]; PMID:150198 [Fam.CA:I.1(397)] |
105750 | M | 215853 | - | North American | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [AP.I.1]; PMID:150198 [Fam.CQ:436] |
105762 | F | 215863 | - | Iranian | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [BP.I.1]; PMID:150198 [Fam.DA:446] |
105763 | F | 215864![]() |
- | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [Fam.BQ:I.1(I.1)]; PMID:150198 [Fam.DB:I.2(448)]; PMID:36105815 [Fam.D186Y:I.1(D186Y/1)] | |
105775 | F | 215868 | - | German | Psoriasiform dermatitis | NFKB1 insufficiency | PMID:32278790 [BX.I.1]; PMID:150198 [Fam.DI:466]; PMID:36105815 [Y286N] |
105779 | F | 215872 | - | Turkish | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [CC.I.1]; PMID:150198 [Fam.DN:474] |
105780 | F | 215873 | - | German | Frequent skin infections | NFKB1 insufficiency | PMID:32278790 [CD.I.1]; PMID:150198 [Fam.DO:475] |
105797 | M | 215879 | - | Eczema | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33864888 [S041] | |
105852 | M | 215893![]() |
- | Erythroderma | Autoinflammation, immune dysregulation, and eosinophilia | PMID:33864888 [S170(II.1)] | |
105898 | F | 215901![]() |
24 | Neutrophilic infiltration of the skin | NFKB1 insufficiency | PMID:150198 [Fam.DY:II.1(544)]; PMID:34825039 [Fam.1:II.1(index)] | |
105902 | F | 215903![]() |
- | Caucasian | Eczema | Hyper-IgE recurrent infection syndrome 1 | PMID:36917542 [Fam.A:II.1(elder-sister)] |
105903 | F | 215903![]() |
- | Caucasian | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:36917542 [Fam.A:II.2(young-sister)] |
105911 | F | 215906![]() |
11 | French | Acne vulgaris | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.A:III.1(P2)] |
105915 | M | 215906![]() |
- | French | Cutaneous abscess | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.A:II.2(P1)] |
105957 | M | 215914 | - | Caucasian | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.P:II.2(P.II.2 (43))] |
105976 | M | 215918 | - | Japanese | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:II.1(W.II.1 (55))]; PMID:35087518 [Fam.15:II.1(15.2)] |
105978 | F | 215918 | - | Japanese | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:II.3(W.II.3 (57))]; PMID:30048690 [Fam.2:II.3(P2.3)]; PMID:35087518 [Fam.15:II.3(15.4)] |
105986 | F | 215921![]() |
- | Psoriasiform dermatitis | NFKB1 insufficiency | PMID:150198 [Fam.FG:II.2(630)]; PMID:36203612 [Fam.1:II.2(1.II.1)] | |
106016 | F | 215725 | - | Caucasian | Psoriasiform dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Z:I.2(Z.I.2 (62))] |
106017 | M | 215725 | - | Caucasian | Psoriasiform dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Z:II.3(Z.II.2 (64))] |
106023 | M | 215923 | - | Japanese | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.AA:IV.1(AA.IV.1 (69))]; PMID:30048690 [Fam.4:IV.1(P4.2)]; PMID:35087518 [Fam.16:IV.1(16.2)] |
106036 | F | 215924 | - | Japanese | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.CC:II.1(CC.II.1 (73))]; PMID:30048690 [Fam.5:II.1(P5.1)]; PMID:35087518 [18.1] |
106041 | M | 215926 | - | Caucasian | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.EE:II.1(EE.II.1 (76))] |
106062 | M | 210991 | - | Caucasian | Psoriasiform dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.13(NN.II.11 (94))] |
106069 | F | 215932 | - | Caucasian | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.RR:II.1(RR.II.1 (98))] |
106071 | M | 215934 | - | Caucasian | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.TT:I.2(TT.I.1 (100))] |
106077 | M | 215934 | - | Caucasian | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.TT:II.4(TT.II.4 (103))] |
106099 | M | 210955 | - | Caucasian | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.ZZ:II.1(ZZ.II.1 (129))] |
106105 | M | 215950 | - | Caucasian | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.CCC:II.1(CCC.II.1 (132))] |
106144 | F | 215953 | - | Italian | Erythroderma | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:33464451 [P8]; PMID:37419334 [P8(27)] |
106150 | F | 215955 | - | Turkish | Erythroderma | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:33464451 [P10] |
106153 | F | 215035![]() |
- | Caucasian | Psoriasiform dermatitis | T-cell lymphopenia with or without nail dystrophy, AD | PMID:33464451 [Fam.P14:I.1(P17)]; PMID:37419334 [P17(22)] |
106155 | M | 215035![]() |
- | Caucasian | Psoriasiform dermatitis | T-cell lymphopenia with or without nail dystrophy, AD | PMID:33464451 [Fam.P14:II.2(P16)]; PMID:37419334 [P16(27)] |
106156 | M | 215035![]() |
- | Caucasian | Erythroderma | T-cell lymphopenia with or without nail dystrophy, AD | PMID:33464451 [Fam.P14:III.3(P18)]; PMID:37419334 [P18(27)] |
106178 | M | 215974![]() |
18 | Finnish | Eczema | NFKB1 insufficiency | PMID:150198 [Fam.FL:III.2(672)]; PMID:36356849 [Fam.1:III.2(F1:III:2)]; PMID:38593810 [Fam.2:II.2(F2.II-1)] |
106209 | F | 215975![]() |
22 | Finnish | Erysipelas | NFKB1 insufficiency | PMID:150198 [Fam.FM:III.3(694)]; PMID:36356849 [Fam.2:III.3(F2:III:3)] |
106240 | F | 215977 | -,- | Caucasian | Dermatitis,Psoriasiform dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:IV.14(UU.IV.12 (120))]; PMID:29305966 [IV.2(IV.2)] |
106246 | F | 215977 | - | Caucasian | Psoriasiform dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.11(UU.III.7 (111))]; PMID:29305966 [Fam.IV.2:III.2(III.2)] |
106248 | F | 215977 | -,- | Caucasian | Dermatitis,Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.15(UU.III.10 (113))]; PMID:29305966 [Fam.IV.2:III.4(III.5)] |
106249 | F | 215977 | -,- | Caucasian | Dermatitis,Psoriasiform dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.9(UU.III.6 (110))]; PMID:29305966 [Fam.IV.2:III.5(III.6)] |
106250 | M | 215977 | -,- | Caucasian | Dermatitis,Psoriasiform dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.5(UU.III.4 (109))]; PMID:29305966 [Fam.IV.2:III.6(III.8)] |
106259 | F | 215977 | -,- | Caucasian | Dermatitis,Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.2(UU.III.2 (107))]; PMID:29305966 [Fam.IV.2:III.12(III.4)] |
106274 | M | 215977 | -,- | Caucasian | Dermatitis,Psoriasiform dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:IV.2(UU.IV.2 (115))]; PMID:29305966 [Fam.IV.2:IV.11(IV.7)] |
106279 | M | 215977 | -,- | Caucasian | Dermatitis,Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:V.2(UU.V.2 (122))]; PMID:29305966 [Fam.IV.2:V.1(V.1)] |
106281 | M | 215977 | -,- | Caucasian | Dermatitis,Psoriasiform dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:V.1(UU.V.1 (121))]; PMID:29305966 [Fam.IV.2:V.3(V.3)] |
106288 | F | 215980![]() |
- | Cutaneous abscess | Immunodeficiency 107 | PMID:38914362 [Fam.Q:II.6(125)]; PMID:38578307 [Fam.1:II.5(Patient)] | |
106313 | F | 215982 | - | Caucasian | Folliculitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P1] |
106332 | F | 215988![]() |
- | Dermatitis | T-cell lymphopenia with or without nail dystrophy, AD | PMID:37419334 [P1(43)(II.2)]; PMID:34860543 [Fam.1:II.2(P1)] | |
106367 | F | 216003![]() |
5 | Turkish | Skin rash | Immunodeficiency 117 | PMID:36736301 [Fam.B:II.1(P2)] |
106413 | M | 216011![]() |
- | Indian | Eczema | Hyper-IgE recurrent infection syndrome 4A | PMID:38578568 [Fam.1:II.2(index)] |
106415 | F | 216011![]() |
- | Indian | Eczema | Hyper-IgE recurrent infection syndrome 4A | PMID:38578568 [Fam.1:I.2(mother)] |
106419 | F | 216013![]() |
0 | Eczema | T-negative/B-positive SCID type 1 | PMID:7481768 [AP(II.1)] | |
106422 | F | 216014 | - | Neutrophilic infiltration of the skin | NFKB1 insufficiency | PMID:150198 [Fam.DX:541]; PMID:34447408 [1(I.1)] | |
106448 | F | 216016![]() |
0 | Japanese | erythema nodosum | Autoinflammation, panniculitis, and dermatosis syndrome 2 | PMID:38914362 [Fam.R:II.1(130)]; PMID:38652464 [Fam.1:II.1(Patient)] |
106463 | F | 216023![]() |
- | Japanese | Skin rash | NFKB1 insufficiency | PMID:150198 [Fam.FX:II.3(779)]; PMID:38514645 [Fam.1:II.3(proband)] |
106471 | M | 216025 | - | Egyptian | Skin rash | Immunodeficiency, common variable, 8 | PMID:32506362 [P6] |
106478 | F | 216031 | - | Egyptian | Skin rash | Immunodeficiency, common variable, 8 | PMID:32506362 [P13] |
106491 | F | 216044![]() |
2 | Cutaneous abscess | Immunodeficiency 22 | PMID:22985903 [Fam.1:II.1(patient)] | |
106547 | M | 216075![]() |
-,- | Dutch | Dermatitis,Skin rash | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.C:II.1(P4)]; PMID:25888558 [Fam.1:III.1(P1)] |
106551 | M | 216075![]() |
- | Dutch | Eczema | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.C:II.2(P5)]; PMID:25888558 [Fam.1:III.2(P2)] |
106555 | M | 216078![]() |
- | Caucasian | Eczema | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.A:II.1(P1)]; PMID:25075845 [Fam.1:II.2(Young-bro)] |
106558 | M | 216078![]() |
- | Caucasian | Eczema | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.A:II.2(P2)]; PMID:25075845 [Fam.1:II.1(Old-bro)] |
106577 | F | 216081![]() |
- | Caucasian | Eczema | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.D:II.2(P6)] |
106581 | F | 216082![]() |
- | Caucasian | Skin rash | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.E:II.1(P7)] |
106592 | M | 216085 | 14 | Eczema | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34116213 [Fam.A:II.1(P1)] | |
106596 | F | 216087![]() |
- | French | Eczema | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.1:I.2(P1)] |
106599 | M | 216087![]() |
- | French | Eczema | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.1:II.1(P2)] |
106600 | M | 216087![]() |
- | French | Eczema | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.1:II.2(P3)] |
106653 | F | 216100 | 0 | Chinese (China) | Pustule | T-negative/B-positive SCID type 1 | PMID:36466884 [Pt1(II.2)] |
106750 | F | 216121![]() |
0 | Palestinian | Erythroderma | T-negative/B-positive SCID type 1 | PMID:32921793 [Fam.B:II.1(P1-B)] |
106753 | F | 216122![]() |
0 | Chinese (China) | Skin rash | T-negative/B-positive SCID type 1 | PMID:31309596 [Pt(II.2)] |
106761 | F | 216124![]() |
1,2 | Caucasian | Dermatitis,Erythroderma | T-negative/B-positive SCID type 1 | PMID:28916186 [P5]; PMID:31440277 [pt(II.1)] |
106767 | M | 216125 | 5 | Cutaneous abscess | Combined immunodeficiency 14B | PMID:31449058 [P1(II.1)] | |
106776 | M | 216127 | - | Brasilian | Skin rash | PMID:30177960 [Fam.Fam 1:III.7] | |
106787 | M | 216138 | - | Eczema | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.278] | |
106788 | F | 216139 | - | Psoriasiform dermatitis | Immunodeficiency, common variable, 8 | PMID:34619682 [P.71] | |
106793 | F | 216144 | - | Cutaneous abscess | Hyper-IgE recurrent infection syndrome 1 | PMID:34619682 [P.246] | |
106807 | F | 216145![]() |
- | German | Psoriasiform dermatitis | Immunodeficiency, common variable, 14 | PMID:34619682 [P.159]; PMID:39059757 [Fam.1:II.1(P1)] |
106871 | F | 216178 | - | Japanese | Skin rash | Adenosine deaminase 2 deficiency | PMID:33529688 [Fam.3:II.1(P4)] |
106872 | M | 216178 | 0 | Japanese | Skin rash | Adenosine deaminase 2 deficiency | PMID:33529688 [Fam.3:II.2(P5)] |
106875 | F | 216179 | 0 | Japanese | Skin rash | Adenosine deaminase 2 deficiency | PMID:33529688 [Fam.4:II.3(P6)] |
106880 | F | 216180 | - | Japanese | Skin rash | Adenosine deaminase 2 deficiency | PMID:33529688 [Fam.5:II.2(P7)] |
106889 | M | 216182![]() |
3 | Caucasian | Eczema | Adenosine deaminase 2 deficiency | PMID:28830446 [Fam.P1:II.2(P2)] |
106932 | M | 216188![]() |
5 | Jewish | Increased inflammatory response | Adenosine deaminase 2 deficiency | PMID:25075848 [patient]; PMID:30139808 [Fam.1:II.5(P)] |
106939 | M | 216189![]() |
- | Caucasian | Eczema | NFKB1 insufficiency | PMID:150198 [Fam.FW:II.1(772)]; PMID:38423196 [Fam.1:II.1(P1)] |
106953 | M | 216195 | - | Increased inflammatory response | NFKB1 insufficiency | PMID:150198 [Fam.GA:793]; PMID:38901617 [Fam.1:I.1(P1)] | |
106959 | M | 216200 | - | Eczema | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P17]; PMID:35677041 [Pt9] | |
107095 | M | 216331 | 1 | Japanese | Skin rash | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [P2] |
107103 | M | 216335![]() |
0 | Chinese (China) | Eczema | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:35677041 [Pt1(II.2)] |
107110 | M | 216339![]() |
14 | Indian | Neutrophilic infiltration of the skin | Autoinflammation with episodic fever and immune dysregulation | PMID:38609546 [P1(IV.2)] |
107143 | M | 216360 | - | Turkish | erythema nodosum | Adenosine deaminase 2 deficiency | PMID:26233953 [Fam.F3:P4] |
107149 | M | 216363 | - | Iranian | Frequent skin infections | Severe congenital neutropenia 6 | PMID:37120535 [Fam.1:I.3(P1)] |
107151 | M | 216364![]() |
- | Turkish | Cutaneous abscess | Hyper-IgE recurrent infection syndrome 2 | PMID:39437980 [Fam.A:II.1(Patient 1)] |
107156 | F | 216365![]() |
1 | Turkish | Eczema | Hyper-IgE recurrent infection syndrome 2 | PMID:39437980 [Fam.B:II.2(Patient 2)] |
107164 | F | 216366![]() |
- | Sri Lankan Tamil | Eczema | Adenosine deaminase 2 deficiency | PMID:26607704 [Fam.P1:II.2(P2)] |
107175 | M | 216368 | - | Berber | Eczema | IL-17RA deficiency | PMID:26607704 [IL17RA-case]; PMID:21350122 [Fam.A:II.5(P1)] |
107208 | F | 216373![]() |
- | Indian | Skin rash | Adenosine deaminase 2 deficiency | PMID:27059682 [Fam.B:II.1(B1)] |
107211 | M | 216373![]() |
- | Indian | Skin rash | Adenosine deaminase 2 deficiency | PMID:27059682 [Fam.B:II.2(B2)] |
107224 | F | 216380 | 13 | Singaporean | erythema nodosum | Adenosine deaminase 2 deficiency | PMID:27069017 [Patient] |
107247 | F | 216396 | - | Increased inflammatory response | Hyper-IgE recurrent infection syndrome 1 | GRID:001501 [case] | |
107248 | F | 216397 | 1 | Kuwaiti | Eczema | Hyper-IgE recurrent infection syndrome 1 | GRID:001502 [Patient] |
107249 | F | 216398![]() |
- | Argentinian | Eczema | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:35677041 [Pt7]; PMID:29378236 [Fam.1:Patient 1] |
107252 | M | 216399![]() |
- | North American | Eczema | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:29378236 [Fam.2:II.2(Patient 2)] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).