Skin rash
Basic details
Preferred term: Skin rash
Alt. terms: Exanthem | Cutaneous Eruption | skin eruption | Exanthema
HPO term: Skin rash
HPO code: HP:0000988
GenIA ID: 782
Last updated on: 2021-12-10 17:55:48
Cross ref. with other ontologies
NCIT: C39594
MESH: D005076
EFO:1000697
OAE: -
SNOMEDCT: -
ICD10: R21
Description
Any change in the skin which affects its appearance or texture. A rash may be localized to one part of the body, or affect all the skin. Rashes may cause the skin to change color (red), itch, become warm, bumpy, dry, cracked or blistered, swell and may be painful.
Hierarchical classification
PARENT terms
TERM
Skin rash
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
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] |
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))] |
101062 | M | 212603![]() |
1 | South Asian | Skin rash | ARPC1B deficiency | PMID:28368018 [Fam.1:II.1(P1)]; PMID:30771411 [P9]; PMID:34673575 [Fam.1:II.1(P1)] |
101100 | F | 211413 | - | Discoid lupus rash | PMID:34975878 [Fam.F063:P063] | ||
101168 | M | 212349 | - | Skin rash | PMID:34390440 [NEG015] | ||
101191 | M | 212375 | - | Egyptian | Skin rash | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES14] |
101195 | F | 212379 | - | Egyptian | Skin rash | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES19] |
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] |
101480 | U | 212454 | - | Italian | Skin rash | Severe combined immunodeficiency 9A, T-B- | PMID:11133745 [P23] |
101491 | F | 212457 | - | Hungarian | Skin rash | Severe combined immunodeficiency 9A, T-B- | PMID:29410113 [Patient(II.1)] |
101566 | F | 210575![]() |
0 | German | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN94]; PMID:18835223 [UPN94]; GRID:000796 [UPN94(II.1)] |
101580 | M | 212601 | - | Iranian | Skin rash | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES17] |
101587 | M | 212604![]() |
0 | Scottish | Skin rash | 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 | Skin rash | ARPC1B deficiency | PMID:28368018 [Fam.2:II.2(P3)]; PMID:30771411 [Fam.P10:II.2(P11)]; PMID:34673575 [Fam.2:II.2(P3)] |
101596 | M | 212618![]() |
1 | Jewish | Skin rash | ARPC1B deficiency | PMID:29127144 [P1(II.1)] |
101655 | F | 212630![]() |
0 | Somali | Skin rash | ARPC1B deficiency | PMID:30771411 [P5(II.2)]; PMID:35767111 [P3] |
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 | Skin rash | ARPC1B deficiency | PMID:30771411 [P12(II.1)] |
101712 | M | 212643 | 10 | Jordanian | Dermatitis | Agammaglobulinemia 4 | PMID:25893637 [P1(II.6)] |
101834 | M | 212351 | - | German | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES41] |
101850 | M | 212198 | - | Skin rash | PMID:34390440 [NEG032] | ||
101880 | M | 212295 | - | Skin rash | PMID:34390440 [NEG047] | ||
101895 | M | 212286 | - | Skin rash | PMID:34390440 [NEG050] | ||
101896 | F | 212289 | - | Skin rash | PMID:34390440 [NEG051] | ||
101925 | M | 210095 | - | Indian | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [CMC20]; PMID:28667753 [case] |
101958 | F | 212666 | - | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES40] | |
101964 | F | 213976 | - | Skin rash | PMID:34390440 [NEG079] | ||
101975 | F | 214053![]() |
- | Turkish | Skin rash | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.2(D.II.1)]; PMID:34390440 [HIES53]; PMID:31980991 [Case] |
101982 | F | 214072 | - | Omani | Skin rash | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES06] |
101984 | F | 214091 | - | Skin rash | PMID:34390440 [NEG091] | ||
101987 | F | 214115 | - | Skin rash | PMID:34390440 [NEG094] | ||
101994 | M | 214135 | - | Skin rash | PMID:34390440 [NEG100] | ||
102008 | M | 214164 | - | Peruvian | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES36] |
102010 | F | 214186 | - | Skin rash | PMID:34390440 [NEG112] | ||
102013 | F | 214190 | - | Skin rash | PMID:34390440 [NEG115] | ||
102015 | M | 214192 | - | Skin rash | PMID:34390440 [NEG117] | ||
102023 | F | 214205 | - | Skin rash | PMID:34390440 [NEG125] | ||
102027 | M | 214215 | - | Skin rash | PMID:34390440 [NEG128] | ||
102031 | M | 214221 | - | Skin rash | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES07] | |
102032 | M | 214223 | - | Skin rash | PMID:34390440 [NEG132] | ||
102033 | M | 214226 | - | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES33] | |
102035 | M | 214232 | - | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES34] | |
102047 | M | 214258 | - | Skin rash | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES13] | |
102052 | M | 214264 | - | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES37] | |
102064 | F | 214284 | - | Qatari | Skin rash | Netherton syndrome | PMID:34390440 [HIES30] |
102065 | M | 214285 | - | Egyptian | Skin rash | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES23] |
102067 | M | 214287 | - | Colombian | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:34390440 [HIES44] |
102082 | U | 214302 | - | Egyptian | Skin rash | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES11] |
102083 | F | 214302 | - | Egyptian | Skin rash | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [NEG168] |
102090 | M | 214309 | - | Dermatitis | Immunodeficiency 58 | PMID:34390440 [HIES29] | |
102101 | M | 214320 | -,- | Turkish | Dermatitis,Skin rash | Netherton syndrome | PMID:34390440 [HIES32] |
102105 | M | 214325 | - | Skin rash | PMID:34390440 [NEG185] | ||
102117 | F | 214341 | - | Egyptian | Skin rash | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES20] |
102155 | U | 214597 | - | Italian | Skin rash | Familial Cold Autoinflammatory Syndrome 2 | PMID:21538323 [P2] |
102253 | M | 214925 | 0 | Kenyan | Pustular rash | ARPC1B deficiency | GRID:000606 [case(II.3)] |
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)] |
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] |
102916 | F | 215017 | - | Skin rash | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P5]; PMID:37419334 [P5(22)] | |
102933 | M | 215034 | - | Skin rash | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P22]; PMID:37419334 [P22(22)] | |
102990 | F | 215076![]() |
- | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 1] | |
102993 | F | 215077![]() |
- | Turkish | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 2] |
102996 | M | 215078![]() |
- | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 3] | |
102999 | M | 215079![]() |
- | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 4] | |
103002 | F | 215080![]() |
- | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 5] | |
103009 | F | 215082![]() |
- | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 6] | |
103012 | M | 215083![]() |
- | Turkish | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 7] |
103015 | M | 215084![]() |
- | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:17676033 [Patient 8] | |
103018 | M | 215085![]() |
- | Japanese | Skin rash | Immunodeficiency 35 | PMID:17676033 [Tyk2 Pt]; PMID:17088085 [Patient] |
103021 | F | 215086![]() |
- | Gypsy | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.1:II.2(C1)] |
103027 | F | 215087![]() |
0 | Hungarian | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN133]; PMID:18706697 [Fam.2:I.2(N1)] |
103029 | F | 215087![]() |
- | Hungarian | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.2:II.1(N2)] |
103031 | M | 215088 | 0 | Hungarian | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN134]; PMID:18706697 [Fam.3:K] |
103038 | F | 215091 | - | Lebanese | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:18706697 [Fam.6:F1] |
103281 | F | 215111![]() |
0 | Chinese (China) | Skin rash | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.1:II.2(P1)] |
103285 | F | 215112![]() |
0 | Ashkenazi Jewish | Papulopustular Rash | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.2:II.1(P2)] |
103556 | F | 215158![]() |
0 | Caucasian | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J002:III.1(Daughter)]; PMID:21288777 [Fam.2:III.1(Daughter)] |
103560 | M | 215158![]() |
0 | Caucasian | Skin rash | 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 | 0 | Caucasian | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J006:Proband]; PMID:28587312 [P14]; PMID:21288777 [F384S]; PMID:23584561 [T2-2] |
103567 | F | 215161![]() |
0 | Caucasian | Skin rash | 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![]() |
0 | Caucasian | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:17881745 [Fam.J007:II.1(Proband)]; PMID:21288777 [Fam.3:II.1(Proband)] |
103732 | M | 215232![]() |
1,16 | Georgian Jewish | Papulopustular Rash,Skin rash | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.A:III.4(A-III-4)] |
103759 | M | 215235![]() |
- | Georgian Jewish | Skin rash | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.D:III.3(D-III-3)] |
103782 | M | 215237![]() |
10 | German | Exanthem | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.F:II.5(F-II-5)] |
103819 | F | 215253 | 2 | Turkish | Skin rash | Adenosine deaminase 2 deficiency | PMID:24737293 [case] |
103827 | M | 215255![]() |
6 | Pakistani | Skin rash | Adenosine deaminase 2 deficiency | PMID:25278816 [Fam.F750:II.1(P2)] |
103880 | F | 215269![]() |
2 | Finnish | Dermatitis | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
103914 | F | 215270 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K1:P1] |
103916 | M | 215271 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K2:P2] |
103917 | F | 215272![]() |
- | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K3:II.2(P4)] |
103918 | M | 215272![]() |
- | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K3:I.1(P3)] |
103921 | F | 215273 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K4:P5] |
103922 | F | 215274 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K5:P6] |
103923 | M | 215275![]() |
- | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K6:II.1(P8)] |
103925 | F | 215275![]() |
- | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K6:I.2(P7)] |
103926 | F | 215276 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K7:P9] |
103927 | F | 215277 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K8:P10] |
103928 | M | 215278 | - | Algerian | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K9:P11] |
103929 | M | 215279 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K10:P12] |
103930 | F | 215280 | - | Moroccan | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K11:P13] |
103931 | M | 215281![]() |
- | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K12:II.2(P16)] |
103933 | F | 215281![]() |
- | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K12:I.2(P14)] |
103934 | F | 215281![]() |
- | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K12:II.1(P15)] |
103935 | F | 215282 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K13:P17] |
103936 | M | 215283 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K14:P18] |
103937 | F | 215284 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K15:P19] |
103938 | M | 215285 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K16:P20] |
103939 | F | 215286 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K17:P21] |
103940 | F | 215287![]() |
- | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K18:P22] |
103944 | M | 215287![]() |
- | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K18:II.2(P23)] |
103945 | M | 215289 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K19:P24] |
103946 | F | 215290 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K20:P25] |
103947 | F | 215291 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K21:P26] |
103948 | F | 215292 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K22:P27] |
103949 | M | 215293![]() |
- | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K23:II.2(P30)] |
103951 | M | 215293![]() |
- | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K23:I.2(P28)] |
103952 | M | 215293![]() |
- | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K23:II.1(P29)] |
103953 | F | 215294 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K24:P31] |
103954 | M | 215295 | - | Algerian | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K25:P32] |
103955 | F | 215296 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K26:P33] |
103956 | M | 215297 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K27:P34] |
103958 | M | 215298![]() |
- | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K28:I.1(P35)] |
103961 | F | 215299 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K29:P36] |
103962 | F | 215300![]() |
- | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K30:II.1(P38)] |
103963 | M | 215300![]() |
- | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K30:I.1(P37)] |
103965 | F | 215301 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K31:P39] |
103966 | F | 215302 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K32:P40] |
103967 | M | 215303 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K33:P41] |
103968 | F | 215304 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K34:P42] |
103969 | F | 215305![]() |
- | Pakistani | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:II.2(P45)] |
103971 | F | 215305![]() |
- | Pakistani | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:I.2(P43)] |
103972 | M | 215305![]() |
- | Pakistani | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:II.1(P44)] |
103973 | M | 215306 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K36:P46] |
103974 | M | 215307 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K37:P47] |
103977 | F | 215308![]() |
- | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K38:I.2(P48)] |
103978 | M | 215309 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K39:P50] |
103979 | M | 215310 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K40:P51] |
103980 | F | 215311 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K41:P52] |
103981 | M | 215312 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K42:P53] |
103982 | F | 215313 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K43:P54] |
103983 | M | 215314 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K44:P55] |
103984 | M | 215315 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K45:P56] |
103985 | M | 215316 | - | Portuguese | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K46:P57] |
103986 | M | 215317 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K47:P58] |
104052 | F | 215328![]() |
0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN110]; GRID:000796 [UPN110(II.1)] |
104056 | M | 215332 | 0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN114]; GRID:000796 [UPN114] |
104057 | M | 215333 | 0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN86]; GRID:000796 [UPN86] |
104060 | M | 215336 | 0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN15]; PMID:18835223 [UPN15]; GRID:000796 [UPN15] |
104061 | M | 215337![]() |
0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN19]; PMID:18835223 [UPN19]; GRID:000796 [UPN19(II.1)] |
104062 | F | 215338 | 0 | Colombian | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN29]; PMID:18835223 [UPN29]; GRID:000796 [UPN29] |
104063 | M | 215339 | 0 | Colombian | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN31]; PMID:18835223 [UPN31]; GRID:000796 [UPN31] |
104064 | M | 215340 | 0 | Middle Eastern | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN43]; GRID:000796 [UPN43] |
104065 | M | 215341 | 0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN56]; GRID:000796 [UPN56] |
104066 | M | 215342 | 0 | Middle Eastern | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN63]; GRID:000796 [UPN63] |
104067 | M | 215343 | 0 | Middle Eastern | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN73]; GRID:000796 [UPN73] |
104068 | F | 215344 | 0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN126]; GRID:000796 [UPN126] |
104073 | M | 215349 | 0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN135]; GRID:000796 [UPN135] |
104074 | F | 215350 | 0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN79]; PMID:18835223 [UPN79]; GRID:000796 [UPN79] |
104076 | F | 215352 | 0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN25]; GRID:000796 [UPN25] |
104078 | M | 215354 | 0 | Middle Eastern | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN44]; GRID:000796 [UPN44] |
104079 | F | 215355 | 0 | Middle Eastern | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN47]; GRID:000796 [UPN47] |
104081 | M | 215357 | 0 | Middle Eastern | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN72]; GRID:000796 [UPN72] |
104083 | M | 215359 | 0 | Middle Eastern | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN92]; GRID:000796 [UPN92] |
104085 | F | 215361 | 0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN6]; PMID:18835223 [UPN6]; GRID:000796 [UPN6] |
104087 | M | 215363![]() |
0 | Middle Eastern | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN65]; GRID:000796 [UPN65(II.2)] |
104090 | F | 215366 | 0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN26]; GRID:000796 [UPN26] |
104094 | M | 215370 | 0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN36]; GRID:000796 [UPN36] |
104095 | F | 215371 | 0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN57]; GRID:000796 [UPN57] |
104097 | M | 215373 | 0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN71]; PMID:18835223 [UPN71]; GRID:000796 [UPN71] |
104099 | M | 215375 | 0 | Colombian | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN32]; PMID:18835223 [UPN32]; GRID:000796 [UPN32] |
104102 | M | 215378 | 0 | Middle Eastern | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN45]; GRID:000796 [UPN45] |
104104 | M | 215380 | 0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN67]; GRID:000796 [UPN67] |
104107 | M | 215383 | 0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN125]; GRID:000796 [UPN125] |
104109 | M | 215385 | 0 | North American | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN49]; GRID:000796 [UPN49] |
104111 | M | 215387 | 0 | Latino | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN27]; GRID:000796 [UPN27] |
104112 | F | 215388 | 0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN103]; GRID:000796 [UPN103] |
104113 | M | 215389 | 0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN18]; PMID:18835223 [UPN18]; GRID:000796 [UPN18] |
104114 | M | 215390 | 0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN116]; GRID:000796 [UPN116] |
104158 | M | 215393![]() |
- | Australian | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.B:II.2(P2)] |
104165 | M | 215394![]() |
- | Indian | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.C:II.4(P3)] |
104177 | M | 215396![]() |
- | Maori | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:34137790 [Fam.E:I.1(P6)] |
104190 | F | 215399 | 0 | Latino | Skin rash | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN30] |
104191 | F | 215400 | 0 | Middle Eastern | Skin rash | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN136] |
104194 | M | 215403 | 0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN151] |
104199 | F | 215406 | 0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN154] |
104200 | M | 215407 | 0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN157] |
104203 | F | 215410![]() |
0 | European | Skin rash | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN160(II.2)] |
104296 | M | 215449![]() |
0 | Chinese (China) | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:21107604 [Case(II.1)] |
104356 | M | 215495 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P1] |
104357 | M | 215496 | 0,- | French | Dermatitis,Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P2] |
104358 | F | 215497 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P3] |
104359 | F | 215498 | -,0 | French Caribbean | Dermatitis,Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P4] |
104360 | M | 215499 | 0,- | French Caribbean | Dermatitis,Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P5] |
104361 | M | 215500 | -,0 | French | Dermatitis,Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P6] |
104362 | F | 215501 | -,0 | Pakistani | Dermatitis,Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P7] |
104363 | M | 215502 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P8] |
104364 | F | 215503 | -,0 | French | Dermatitis,Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P9] |
104365 | F | 215504 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P10] |
104366 | M | 215505 | 0 | French | Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P11] |
104367 | F | 215506 | 0,- | Moroccan | Dermatitis,Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P12] |
104368 | F | 215507 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P13] |
104370 | M | 215509 | - | Algerian | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P14] |
104371 | M | 215510 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P15] |
104372 | M | 215511 | -,0 | French | Dermatitis,Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P16] |
104373 | F | 215512 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P17] |
104374 | F | 215513 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P18] |
104375 | M | 215514 | - | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P19] |
104376 | M | 215515 | 0,- | French | Dermatitis,Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P20] |
104377 | M | 215516 | 0,- | French | Dermatitis,Skin rash | Hyper-IgE recurrent infection syndrome 1 | PMID:22084479 [P21] |
104414 | M | 215526![]() |
0 | Turkish | Skin rash | Early-onset atopic inflammation | PMID:36758835 [Patient(V.3)] |
104473 | M | 215534![]() |
0 | South Asian | Skin rash | Early-onset atopic inflammation | PMID:36884218 [Fam.H:II.1(P11)] |
104535 | M | 215547![]() |
18 | Reunionese | Discoid lupus rash | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.D:II.1(Patient D1)] |
104554 | M | 215551![]() |
0 | 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![]() |
0 | 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 | Papulopustular Rash | 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 | Papulopustular Rash,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)] |
104630 | M | 215560![]() |
- | Dermatitis | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.C:II.2(P3)] | |
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] |
105019 | M | 215624![]() |
- | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [P1(III.4)] |
105023 | M | 215624![]() |
- | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:II.2(P2)] |
105058 | F | 215624![]() |
- | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:II.3(P4)] |
105063 | F | 215624![]() |
- | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:III.2(P6)] |
105066 | F | 215624![]() |
- | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:III.6(P3)] |
105069 | M | 215624![]() |
- | French | Dermatitis | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:IV.1(P5)] |
105135 | F | 215649![]() |
0 | Moroccan | Skin rash | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:38914362 [Fam.M:II.1(107)] |
105220 | F | 215666![]() |
13 | 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)] |
105357 | M | 215719 | 9 | Dermatitis | Immunodeficiency, common variable, 8 | PMID:29804237 [P1] | |
105549 | F | 215801 | - | Caucasian | Skin rash | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29200144 [Fam.A:IV.1(P1)] |
105902 | F | 215903![]() |
- | Caucasian | Skin rash | 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)] |
106240 | F | 215977 | - | Caucasian | Dermatitis | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:IV.14(UU.IV.12 (120))]; PMID:29305966 [IV.2(IV.2)] |
106248 | F | 215977 | - | Caucasian | Dermatitis | 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 | 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 | 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 | 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 | 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 | 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 | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:V.1(UU.V.1 (121))]; PMID:29305966 [Fam.IV.2:V.3(V.3)] |
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![]() |
5,5 | Turkish | Pustular rash,Skin rash | Immunodeficiency 117 | PMID:36736301 [Fam.B:II.1(P2)] |
106448 | F | 216016![]() |
0 | Japanese | Pustular rash | 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] |
106547 | M | 216075![]() |
-,4 | 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 | Skin rash | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.C:II.2(P5)]; PMID:25888558 [Fam.1:III.2(P2)] |
106558 | M | 216078![]() |
- | Caucasian | Skin rash | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.A:II.2(P2)]; PMID:25075845 [Fam.1:II.1(Old-bro)] |
106581 | F | 216082![]() |
- | Caucasian | Skin rash | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.E:II.1(P7)] |
106753 | F | 216122![]() |
1 | Chinese (China) | Skin rash | T-negative/B-positive SCID type 1 | PMID:31309596 [Pt(II.2)] |
106761 | F | 216124![]() |
2 | Caucasian | Dermatitis | T-negative/B-positive SCID type 1 | PMID:28916186 [P5]; PMID:31440277 [pt(II.1)] |
106776 | M | 216127 | - | Brasilian | Skin rash | PMID:30177960 [Fam.Fam 1:III.7] | |
106871 | F | 216178 | -,0 | Japanese | Bull's eye rash,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)] |
107095 | M | 216331 | 1 | Japanese | Skin rash | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [P2] |
107149 | M | 216363 | 1 | Iranian | Papulopustular Rash | Severe congenital neutropenia 6 | PMID:37120535 [Fam.1:I.3(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)] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).