Abnormality of immune system physiology
Basic details
Preferred term: Abnormality of immune system physiology
Alt. terms:
HPO term: Abnormality of immune system physiology
HPO code: HP:0010978
GenIA ID: 7934
Last updated on: 2021-08-02 21:50:33
Cross ref. with other ontologies
NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -
Description
A functional abnormality of the immune system.
Hierarchical classification
PARENT terms
TERM
Abnormality of immune system physiology
CHILD terms
- Immune dysregulation
- Septicaemia
- Autoimmunity
- Atopy
- Unusual infection
- Inflammation
- Immunodeficiency
- Abnormality of humoral immunity
- Abnormal phagocytosis
- Abnormality of immune serum protein physiology
- Abnormal lymphocyte surface marker expression
- Abnormal MHC II surface expression
- Impaired antigen-specific response
- Abnormal leukocyte physiology
Reported patients added to GenIA DB
| SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
|---|---|---|---|---|---|---|---|
| 101036 | F | 210182 |
- | Caucasian | Septicaemia | 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:34111452 [B.II.1 (13)]; PMID:37740092 [P01] |
| 101037 | M | 210182 |
- | Caucasian | Septicaemia | 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)]; PMID:34111452 [B.II.3 (15)] |
| 101038 | F | 210182 |
- | Caucasian | Septicaemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:II.6(B.II.4)]; PMID:30250467 [B.II.4]; PMID:29729943 [Fam.B:II.6(B.II.4 (16))]; PMID:34975878 [Fam.F014:III.6(P015)]; PMID:27418640 [P14(5)]; PMID:34111452 [B.II.4 (16)] |
| 101040 | F | 210724 |
20 | Caucasian | Septicaemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.GG:II.1(GG.II.1 (79))]; PMID:31857261 [Patient 15]; PMID:34111452 [AG.II.1 (79)] |
| 101043 | M | 210725 |
- | Caucasian | Septicaemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.H:II.2(H.II.2 (30))]; PMID:34975878 [Fam.F017:P017]; PMID:34111452 [H.II.2 (30)] |
| 101067 | M | 211264 | 7 | Unusual infection | PMID:34975878 [Fam.F036:P036] | ||
| 101076 | F | 210226 | 11 | German | Septicaemia | PMID:34975878 [Fam.F041:P041] | |
| 101077 | F | 210211 | 14 | German | Septicaemia | PMID:34975878 [Fam.F043:P043] | |
| 101082 | F | 211226 | 50 | Septicaemia | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F048:P048] | |
| 101101 | M | 211414 | - | Autoimmunity | Immunodeficiency, common variable, 13 | PMID:31057532 [Fam.G:II.1] | |
| 101127 | F | 210318 | 50 | German | Septicaemia | PMID:34975878 [Fam.F077:P077] | |
| 101136 | M | 210356 | - | Unusual infection | PMID:34975878 [Fam.F085:P085] | ||
| 101155 | M | 210235 | - | German | Septicaemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [JJ.II.I]; PMID:29729943 [Fam.JJ:II.1(83)]; PMID:34975878 [Fam.F098:P098]; PMID:34111452 [AJ.II.1 (83)] |
| 101160 | F | 211433 | - | Autoimmunity | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F101:P101] | |
| 101167 | M | 211470 |
- | Septicaemia | NFKB1 insufficiency | PMID:34975878 [Fam.F108:P108]; PMID:33486103 [Fam.1:II.1(patient)]; PMID:150198 [Fam.DT:II.1(510)] | |
| 101178 | M | 210542 | 17 | Autoimmunity | PMID:34975878 [Fam.F114:P114] | ||
| 101201 | F | 211487 | - | Autoimmunity | Immunodeficiency, common variable, 10 | PMID:34975878 [Fam.F123:II.3(P123)]; PMID:30941118 [Fam.1404:II.3(Pt#22)] | |
| 101292 | F | 212146 | 16 | Saudi | Inflammation | Immunodeficiency, common variable, 8 | PMID:22721650 [Fam.VI:5:VI.2(VI:2)]; PMID:26707784 [P7] |
| 101309 | M | 212148 | - | Saudi | Septicaemia | Immunodeficiency, common variable, 8 | PMID:25468195 [Fam.A:II.3(P1)]; PMID:26707784 [P15] |
| 101336 | M | 212152 | - | Omani | Unusual infection | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.3 :II.1] |
| 101386 | F | 212164 | 9 | Pakistani | Septicaemia | Immunodeficiency, common variable, 8 | PMID:22981790 [P1(II.1)]; PMID:26707784 [P11] |
| 101401 | F | 210205 |
- | Caucasian | Unusual infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.17(A.II.9)]; PMID:29729943 [Fam.A:II.17(A.II.9 (6))]; PMID:27418640 [P9(5)]; PMID:34111452 [A.II.9 (6)] |
| 101421 | F | 212170 | 6 | Iranian | Immunodeficiency | Immunodeficiency, common variable, 8 | PMID:26707784 [Fam.B:IV.1(P24)]; PMID:26993986 [F5]; PMID:28512785 [P15] |
| 101426 | M | 212173 | 5 | Iranian | Immunodeficiency | Immunodeficiency, common variable, 8 | PMID:29528757 [Case 2]; PMID:26707784 [Fam.E:IV.2(P28)]; PMID:26993986 [Fam.F17:II.1(1)]; PMID:28512785 [P7] |
| 101452 | M | 212394 | - | Iranian | Autoimmunity | Immunodeficiency, common variable, 8 | PMID:29528757 [Case 1]; PMID:28512785 [Fam.3:P3]; PMID:31117086 [P33] |
| 101495 | M | 212458 | 1 | Taiwanese | Septicaemia | Activated p110-delta syndrome 1 | PMID:16984281 [P3(II.1)] |
| 101565 | M | 211008 |
- | Caucasian | Unusual infection | NFKB1 insufficiency | PMID:34975878 [Fam.F188:P188]; PMID:32278790 [Fam.BS:II.1(II.1)]; PMID:150198 [Fam.DD:II.1(457)]; PMID:36105815 [Fam.M216V:II.1(M216V/1)] |
| 101579 | F | 210773 | 20 | Turkish | Inflammation | Adenosine deaminase 2 deficiency | PMID:28493328 [P1]; PMID:31857261 [Patient 13] |
| 101597 | M | 212618 |
0 | Jewish | Septicaemia | ARPC1B deficiency | PMID:29127144 [Fam.P1:II.10(P2)]; PMID:30254128 [P7]; PMID:35767111 [P6] |
| 101663 | M | 211078 | - | Autoimmunity | PMID:34975878 [Fam.F231:P231] | ||
| 101710 | F | 210771 | - | Unusual infection | PMID:34975878 [Fam.F247:P247] | ||
| 101711 | M | 210925 |
- | Turkish | Unusual infection | NFKB1 insufficiency | PMID:34975878 [Fam.F412:P412]; PMID:32278790 [Fam.BT:II.1(II.1)]; PMID:150198 [Fam.DE:II.1(460)]; PMID:36105815 [Fam.R230K:II.1(R230K/2)] |
| 101717 | F | 210260 |
- | Caucasian | Septicaemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.C:II.3(C.II.3)]; PMID:29729943 [Fam.C:II.3(C.II.3 (19))]; PMID:27418640 [P16(5)]; PMID:34111452 [C.II.3 (19)] |
| 101727 | M | 210300 |
- | North American | Septicaemia | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:II.1(P1)] |
| 101740 | M | 210300 |
- | North American | Septicaemia | Immunodeficiency, common variable, 15 | PMID:28782633 [Fam.I:III.13(P9)] |
| 101753 | M | 210024 | - | Japanese | Immune dysregulation | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.1(P10)] |
| 101754 | M | 210024 | - | Japanese | Immune dysregulation | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.2(P11)] |
| 101764 | F | 210031 | - | Dutch | Immune dysregulation | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.656:P19] |
| 101775 | M | 210908 |
- | Argentinian | Autoimmunity | Adenosine deaminase 2 deficiency | PMID:28493328 [Fam.P9:II.2(P10)] |
| 101801 | M | 211151 | - | Immune dysregulation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F260:P260]; PMID:37740092 [P20] | |
| 101821 | F | 210122 | - | Autoimmunity | PMID:34390440 [NEG027] | ||
| 101833 | M | 210887 | - | Autoimmunity | Agammaglobulinemia, X-linked 1 | PMID:34975878 [Fam.F295:P295] | |
| 101840 | F | 211591 | - | Autoimmunity | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F301:P301] | |
| 101848 | F | 211633 | - | Autoimmunity | PMID:34975878 [Fam.F309:P309] | ||
| 101854 | M | 211650 | - | Septicaemia | PMID:34975878 [Fam.F316:P316] | ||
| 101878 | F | 211747 | - | Autoimmunity | PMID:34975878 [Fam.F323:P323] | ||
| 101932 | F | 210102 | - | Autoimmunity | Immunodeficiency 31C | PMID:34390440 [CMC11] | |
| 101951 | M | 212062 | - | Autoimmunity | PMID:34975878 [Fam.F375:P375] | ||
| 102143 | M | 214416 | - | Slovenian | Unusual infection | Immunodeficiency, common variable, 8 | PMID:28720148 [Patient] |
| 102175 | M | 210725 |
- | Caucasian | Septicaemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [H.II.1]; PMID:29729943 [Fam.H:II.1(H.II.1 (29))]; PMID:34111452 [H.II.1 (29)] |
| 102216 | F | 214916 |
16 | Belgian | Septicaemia | Severe congenital neutropenia 11 | PMID:32325141 [Patient(II.1)] |
| 102222 | M | 214917 | 28 | German | Septicaemia | NFKB1 insufficiency | PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C] |
| 102260 | F | 214926 |
1 | Mexican | Septicaemia | ARPC1B deficiency | PMID:32683750 [Fam.case:II.2(sister)]; PMID:36708766 [Fam.A:II.2(P1)] |
| 102410 | F | 214947 |
4 | South Asian | Septicaemia | Hyper-IgE recurrent infection syndrome 4B | PMID:28747427 [Fam.A:II.3(P1)] |
| 102466 | M | 214962 |
2 | Polish | Immunodeficiency | Immunodeficiency 94 | PMID:33517393 [Patient(III.7)] |
| 102626 | M | 214969 |
15 | Filipino | Unusual infection | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.1:II.1(P1)] |
| 102630 | M | 214970 |
- | European | Unusual infection | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.2:II.1(P2)] |
| 102633 | M | 214971 |
7 | European | Unusual infection | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.3:II.1(P3)] |
| 102637 | M | 214972 |
16 | Unusual infection | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.4:II.2(P4)] | |
| 102641 | M | 214973 |
16 | European | Unusual infection | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.5:II.2(P5)] |
| 102645 | M | 214974 |
1 | Caucasian | Unusual infection | Immunodeficiency 98 with autoinflammation | PMID:33512449 [Fam.6:II.1(P6)] |
| 102772 | M | 214985 |
28 | Moroccan | Septicaemia | PMID:29907691 [Fam.A:II.1(P1)] | |
| 102865 | F | 214996 |
- | Italian | Septicaemia | ARPC1B deficiency | Hartnup disease | PMID:35967303 [PtII-1(II.1)]; PMID:35967303 [PtII-1(II.1)] |
| 102881 | F | 215003 |
- | Portuguese | Unusual infection | 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)] |
| 102884 | M | 215004 |
- | Admixed | Unusual infection | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:20978268 [Fam.2:II.1(P2)]; PMID:33464451 [P4]; PMID:22721479 [Patient]; PMID:28077132 [P8] |
| 102900 | F | 215007 |
- | Turkish | Septicaemia | 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)] |
| 103018 | M | 215085 |
15 | Japanese | Septicaemia | Immunodeficiency 35 | PMID:17676033 [Tyk2 Pt]; PMID:17088085 [Patient] |
| 103027 | F | 215087 |
- | Hungarian | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN133]; PMID:18706697 [Fam.2:I.2(N1)] |
| 103076 | F | 215099 |
3 | Omani | Immunodeficiency | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.5(P6)] |
| 103113 | M | 215100 |
- | Iranian | Septicaemia | Seizures, cortical blindness, microcephaly syndrome | PMID:36212620 [Patient(II.1)] |
| 103462 | F | 215132 |
- | Moroccan | Septicaemia | ARPC1B deficiency | PMID:35767111 [P4(II.2)] |
| 103541 | M | 215155 |
- | Mexican | Septicaemia | ARPC1B deficiency | PMID:36708766 [Fam.B:II.1(P4)] |
| 103788 | M | 215242 |
- | South Korean | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:19348930 [Patient(II.1)] |
| 103880 | F | 215269 |
3 | Finnish | Septicaemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
| 103969 | F | 215305 |
1 | Pakistani | Septicaemia | Hyper-IgE recurrent infection syndrome 1 | PMID:22751495 [Fam.K35:II.2(P45)] |
| 104052 | F | 215328 |
- | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN110]; GRID:000796 [UPN110(II.1)] |
| 104056 | M | 215332 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN114]; GRID:000796 [UPN114] |
| 104057 | M | 215333 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN86]; GRID:000796 [UPN86] |
| 104058 | F | 215334 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN17]; PMID:18835223 [UPN17]; GRID:000796 [UPN17] |
| 104059 | M | 215335 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN108]; GRID:000796 [UPN108] |
| 104060 | M | 215336 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN15]; PMID:18835223 [UPN15]; GRID:000796 [UPN15] |
| 104061 | M | 215337 |
- | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN19]; PMID:18835223 [UPN19]; GRID:000796 [UPN19(II.1)] |
| 104062 | F | 215338 | - | Colombian | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN29]; PMID:18835223 [UPN29]; GRID:000796 [UPN29] |
| 104063 | M | 215339 | - | Colombian | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN31]; PMID:18835223 [UPN31]; GRID:000796 [UPN31] |
| 104067 | M | 215343 | - | Middle Eastern | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN73]; GRID:000796 [UPN73] |
| 104068 | F | 215344 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN126]; GRID:000796 [UPN126] |
| 104070 | M | 215346 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN129]; GRID:000796 [UPN129] |
| 104073 | M | 215349 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN135]; GRID:000796 [UPN135] |
| 104075 | M | 215351 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN98]; GRID:000796 [UPN98] |
| 104076 | F | 215352 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN25]; GRID:000796 [UPN25] |
| 104079 | F | 215355 | - | Middle Eastern | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN47]; GRID:000796 [UPN47] |
| 104082 | M | 215358 | - | Middle Eastern | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN77]; GRID:000796 [UPN77] |
| 104084 | F | 215360 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN95]; GRID:000796 [UPN95] |
| 104086 | M | 215362 |
- | Middle Eastern | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN60]; GRID:000796 [UPN60(I.1)] |
| 104089 | F | 215365 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN130]; GRID:000796 [UPN130] |
| 104090 | F | 215366 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN26]; GRID:000796 [UPN26] |
| 104094 | M | 215370 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN36]; GRID:000796 [UPN36] |
| 104095 | F | 215371 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN57]; GRID:000796 [UPN57] |
| 104097 | M | 215373 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN71]; PMID:18835223 [UPN71]; GRID:000796 [UPN71] |
| 104099 | M | 215375 | - | Colombian | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN32]; PMID:18835223 [UPN32]; GRID:000796 [UPN32] |
| 104101 | F | 215377 | - | Middle Eastern | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN42]; GRID:000796 [UPN42] |
| 104103 | F | 215379 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN66]; GRID:000796 [UPN66] |
| 104104 | M | 215380 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN67]; GRID:000796 [UPN67] |
| 104105 | M | 215381 |
- | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN106]; GRID:000796 [Fam.UPN106:II.1] |
| 104107 | M | 215383 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN125]; GRID:000796 [UPN125] |
| 104110 | F | 215386 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN109]; GRID:000796 [UPN109] |
| 104111 | M | 215387 | - | Latino | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN27]; GRID:000796 [UPN27] |
| 104114 | M | 215390 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20159255 [UPN116]; GRID:000796 [UPN116] |
| 104190 | F | 215399 | - | Latino | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN30] |
| 104192 | F | 215401 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN143] |
| 104193 | M | 215402 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN147] |
| 104195 | M | 215404 | - | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN152] |
| 104196 | M | 215405 |
- | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN153(I.1)] |
| 104203 | F | 215410 |
- | European | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | GRID:000796 [UPN160(II.2)] |
| 104296 | M | 215449 |
- | Chinese (China) | Septicaemia | Hyper-IgE recurrent infection syndrome 1 | PMID:21107604 [Case(II.1)] |
| 104300 | F | 215450 |
- | Greek | Unusual infection | Hyper-IgE recurrent infection syndrome 1 | PMID:20149460 [Patient] |
| 104398 | M | 215522 |
0 | Czech | Septicaemia | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36932076 [P3(II.1)] |
| 104401 | M | 215523 |
- | Turkish | Immunodeficiency | Immunodeficiency 114 | PMID:36517554 [Pt1(IV.1)] |
| 104568 | F | 215551 |
1 | Pakistani | Septicaemia | 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)] |
| 104619 | M | 215558 |
19 | Dutch | Septicaemia | Immunodeficiency 107 | PMID:35587511 [Fam.A:II.3(5)]; PMID:38914362 [Fam.G:II.3(075)] |
| 104630 | M | 215560 |
- | Septicaemia | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.C:II.2(P3)] | |
| 104653 | M | 215564 |
10 | Mexican | Septicaemia | Immunodeficiency 107 | PMID:35587511 [Fam.C:III.1(5)]; PMID:38914362 [Fam.I:III.1(089)] |
| 104685 | F | 215571 |
- | Iranian | Septicaemia | Severe early onset systemic inflammation and autoimmunity | PMID:37382373 [Fam.1:VI.6(VI.5)] |
| 104713 | M | 215571 |
- | Iranian | Septicaemia | Severe early onset systemic inflammation and autoimmunity | PMID:37382373 [Fam.1:VI.5(VI.4)] |
| 104787 | M | 215573 |
- | Septicaemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.A:I.1(A.I.1)]; PMID:27418640 [P1(4)] | |
| 104797 | M | 215577 |
- | Atopy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)] | |
| 104838 | M | 215578 |
- | Caucasian | Septicaemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.F:II.2(F.II.2)]; PMID:29729943 [Fam.F:II.1(24)]; PMID:27418640 [P20(5)]; PMID:34619682 [P.56]; PMID:34111452 [F.II.1 (24)] |
| 104845 | F | 215579 |
- | European | Septicaemia | 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)] |
| 104850 | M | 215584 | 0 | Egyptian | Septicaemia | Omenn syndrome 2 | PMID:30307608 [5] |
| 104858 | M | 215592 | 1 | Egyptian | Septicaemia | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [11] |
| 104867 | F | 215601 | 0 | Egyptian | Septicaemia | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [19] |
| 104886 | F | 215613 |
- | Caucasian | Septicaemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.G:III.1(G.III.1 (26))]; PMID:25367873 [Fam.1:III.6(III.6)]; PMID:34111452 [G.III.1 (26)] |
| 104953 | F | 215622 |
74 | Dutch | Septicaemia | 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)] |
| 104956 | F | 215622 |
55 | Dutch | Septicaemia | NFKB1 insufficiency | PMID:32278790 [Fam.NA:II.18(II.18)]; PMID:26279205 [Fam.NL1:II.22(19)]; PMID:29403474 [Fam.NL1 (5):II.22(19)]; PMID:11583829 [Fam.1:II.21(II:21)]; PMID:16639407 [Fam.1:II.22(19)]; PMID:150198 [Fam.AA:II.22(024)] |
| 105025 | F | 215626 |
- | French | Autoimmunity | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:32392079 [P1]; PMID:29590538 [Patient]; PMID:35677041 [Pt8] |
| 105057 | F | 215635 |
26 | German | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [S.I.1]; PMID:29403474 [Patient 1 (8)]; PMID:27365489 [Fam.1:II.1(Pat.1)]; PMID:150198 [Fam.AE:II.1(121)] |
| 105088 | M | 215638 |
24 | Japanese | Septicaemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:26644313 [Fam.P:II.3(case)]; PMID:30250467 [M.II.3]; PMID:29729943 [Fam.M:II.3(37)]; PMID:27418640 [P21(16)]; PMID:34111452 [M.II.3 (37)]; PMID:35087518 [11.1] |
| 105103 | F | 215641 |
11 | South Korean | Septicaemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:26478010 [Fam.1:III.2(Patient)] |
| 105149 | M | 215654 |
21 | Chinese (China) | Autoimmunity | Immunodeficiency, common variable, 14 | PMID:37350971 [Patient(II.1)]; PMID:37876937 [Fam.E:II.1(E.1)] |
| 105172 | M | 215659 |
- | Caucasian | Autoimmunity | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.T:II.1(48)]; PMID:27102614 [Fam.A:II.1(P1)]; PMID:34111452 [T.II.1 (48)] |
| 105173 | M | 215659 |
- | Immune dysregulation | PMID:27102614 [Fam.A:I.1(father)] | ||
| 105179 | F | 215661 |
- | Caucasian | Septicaemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:I.2(L.I.2 (34))]; PMID:27102614 [Fam.C:I.2(mother)]; PMID:34111452 [L.I.2 (34)] |
| 105209 | M | 215666 |
39 | Finnish | Septicaemia | 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)] |
| 105214 | F | 215666 |
- | Finnish | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.2(III.2)]; PMID:29403474 [Fam.1 (9):III.2(F1.III-2)]; PMID:28115215 [Fam.1:III.2(F1.III-2)]; PMID:150198 [Fam.AQ:III.2(176)]; PMID:36356849 [Fam.6:III.2(F6:III:2)]; PMID:36105815 [Fam.H67R:III.2(H67R/3)] |
| 105221 | M | 215666 |
- | Finnish | Septicaemia | 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 | Autoimmunity | 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)] |
| 105232 | M | 215672 |
48 | Finnish | Septicaemia | NFKB1 insufficiency | PMID:32278790 [Fam.F3:II.1(II.1)]; PMID:29403474 [Fam.3 (9):II.1(F3.II-1)]; PMID:28115215 [Fam.3:II.1(F3.II-1)]; PMID:150198 [Fam.AS:II.1(196)]; PMID:36356849 [Fam.3:II.1(F3:II:1)]; PMID:36892687 [II:1(II.1)]; PMID:38593810 [Fam.1:II.1(F1.II-1)] |
| 105238 | M | 215672 |
28 | Finnish | Septicaemia | 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)] |
| 105239 | F | 215672 |
- | Finnish | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [Fam.F3:II.8(II.6)]; PMID:28115215 [Fam.3:II.6(F3.II-6)]; PMID:150198 [Fam.AS:II.14(209)]; PMID:36356849 [Fam.3:II.14(F3:II:14)]; PMID:36892687 [II:7(II.7)]; PMID:38593810 [Fam.1:II.13(F1.II-7)] |
| 105241 | M | 215673 | 8 | Kuwaiti | Septicaemia | Immunodeficiency, common variable, 8 | PMID:27760045 [P3(II.1)] |
| 105256 | F | 210008 |
- | German | Septicaemia | PMID:32278790 [Fam.AU:I.2(I.2)]; PMID:150198 [Fam.AM:I.2(153)] | |
| 105272 | M | 215681 | - | Saudi | Autoimmunity | Immunodeficiency, common variable, 8 | PMID:28134088 [P1(II.1)] |
| 105273 | F | 215682 | - | North American | Autoimmunity | CTLA4 haploinsufficiency with autoimmune infiltration | GRID:000111 [Patient(I.1)] |
| 105313 | M | 215688 |
7 | European | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [E.II.1]; PMID:29477724 [Fam.E:II.1(II:1)]; PMID:150198 [Fam.AY:II.2(264)]; PMID:36105815 [Fam.I281M:II.2(I281M/1)] |
| 105314 | F | 215689 | 70 | European | Septicaemia | NFKB1 insufficiency | PMID:32278790 [F.II.1]; PMID:29477724 [Fam.F:II.1(II:1)]; PMID:150198 [Fam.AZ:265]; PMID:36105815 [V98D] |
| 105333 | F | 215695 | - | European | Septicaemia | NFKB1 insufficiency | PMID:32278790 [N.II.1]; PMID:29477724 [Fam.N:II.1(II:1)]; PMID:150198 [Fam.BH:286] |
| 105349 | F | 215711 | 4 | Immunodeficiency | Combined immunodeficiency with skin-hair depigmentation | PMID:29408330 [P2] | |
| 105351 | M | 215713 | - | Saudi | Autoimmunity | Immunodeficiency, common variable, 8 | PMID:28831385 [PD] |
| 105353 | F | 215715 | - | Turkish | Septicaemia | Immunodeficiency, common variable, 8 | PMID:26686526 [P1] |
| 105355 | M | 215717 | - | Caucasian | Autoimmunity | Immunodeficiency, common variable, 8 | PMID:28197149 [P1(II.1)] |
| 105361 | F | 215701 |
- | Pakistani | Septicaemia | Immunodeficiency 87 | PMID:31308374 [Fam.A:III.3(P2)] |
| 105388 | M | 215739 | - | Immune dysregulation | Immunodeficiency, common variable, 8 | PMID:31238161 [Fam.F1:P1] | |
| 105398 | F | 215749 | 2 | Autoimmunity | Immunodeficiency, common variable, 8 | PMID:31389321 [Patient 1] | |
| 105428 | M | 215766 |
- | Admixed | Autoimmunity | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.F:II.2(P9)]; PMID:25457153 [Fam.1:II.3(P2)]; PMID:25075846 [Fam.1:II.3(younger-sib)] |
| 105433 | F | 215768 |
- | Danish | Atopy | NFKB1 insufficiency | PMID:32278790 [AQ.I.1]; PMID:150198 [Fam.BX:II.2(359)]; PMID:32047491 [P2(I.1)]; PMID:36105815 [N323Y] |
| 105458 | M | 215771 |
- | Caucasian | Septicaemia | NFKB1 insufficiency | PMID:32278790 [BO.I.1]; PMID:150198 [Fam.BV:II.5(344)]; PMID:31803180 [Fam.E:II.4(S9)]; PMID:36105815 [Fam.R157P:II.5(S9)]; PMID:34619682 [P.210] |
| 105533 | M | 215791 |
- | Portuguese | Septicaemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29225858 [Patient] |
| 105564 | M | 215807 |
3 | Spanish | Autoimmunity | 4q24 deletion syndrome | PMID:29867916 [N227(II.1)]; PMID:150198 [Fam.BK:I.2(291)]; PMID:35784294 [case(II.1)] |
| 105567 | M | 215808 | - | Turkish | Septicaemia | Immunodeficiency, common variable, 8 | PMID:31026575 [P3]; PMID:31432443 [P12] |
| 105591 | F | 215821 | - | Caucasian | Septicaemia | Activated p110-delta syndrome 1 | PMID:24610295 [Fam.2:II.1(F2P2)] |
| 105630 | M | 215824 | - | Unusual infection | Immunodeficiency 84 | PMID:34694366 [Fam.1:II.2(p2)] | |
| 105647 | M | 215832 | - | Septicaemia | Immunodeficiency, common variable, 8 | PMID:34368306 [Patient 3] | |
| 105651 | F | 210401 |
- | German | Autoimmunity | PMID:150198 [Fam.BW:I.2(349)] | |
| 105671 | M | 215837 |
- | Spanish | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [Fam.AF:II.1(II.1)]; PMID:150198 [Fam.BY:II.1(363)] |
| 105687 | F | 215840 |
- | Caucasian | Immune dysregulation | 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)] |
| 105693 | F | 215841 |
16 | Australian | Immune dysregulation | NFKB1 insufficiency | PMID:32278790 [Fam.W:II.1(W.II.1)]; PMID:150198 [Fam.CF:II.1(420)] |
| 105701 | M | 211370 |
- | Turkish | Immune dysregulation | PMID:32278790 [Fam.AJ:II.4(II.4)]; PMID:150198 [Fam.BZ:II.3(369)] | |
| 105740 | U | 215845 | - | Septicaemia | NFKB1 insufficiency | PMID:32278790 [R.I.1]; PMID:150198 [Fam.CI:425] | |
| 105744 | M | 215849 | - | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [AG.I.1]; PMID:150198 [Fam.CN:433] | |
| 105745 | M | 215850 | 3 | Immune dysregulation | NFKB1 insufficiency | PMID:32278790 [AI.I.1]; PMID:150198 [Fam.CO:434] | |
| 105750 | M | 215853 | 16 | North American | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [AP.I.1]; PMID:150198 [Fam.CQ:436] |
| 105756 | F | 215859 | 13 | Portuguese | Immune dysregulation | NFKB1 insufficiency | PMID:32278790 [BD.I.1]; PMID:150198 [Fam.CW:442] |
| 105781 | F | 215874 | - | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [CE.I.1]; PMID:150198 [Fam.DP:476] | |
| 105782 | M | 215875 | - | Autoimmunity | NFKB1 insufficiency | PMID:32278790 [CF.I.1]; PMID:150198 [Fam.DQ:477] | |
| 105783 | F | 215876 |
- | Caucasian | Septicaemia | NFKB1 insufficiency | PMID:150198 [Fam.DR:III.1(483)]; PMID:32972988 [Fam.1:II.1(Index)] |
| 105791 | F | 215877 |
- | Spanish | Immunodeficiency | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.1:II.1(1.1)] |
| 105794 | M | 215878 |
- | Spanish | Immunodeficiency | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.2:II.1(2.1)] |
| 105799 | M | 215881 |
- | Pakistani | Unusual infection | Combined immunodeficiency 41 | PMID:32980423 [Fam.1:V.2(1.V.2)]; PMID:150198 [Fam.DS:V.2(506)] |
| 105839 | M | 215888 |
14 | Romani | Immunodeficiency | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.3:II.1(3.1)] |
| 105844 | M | 215889 |
- | Spanish | Immunodeficiency | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.4:II.1(4.1)] |
| 105850 | F | 215891 |
- | Septicaemia | Autoinflammation, immune dysregulation, and eosinophilia | PMID:33864888 [S066(II.6)] | |
| 105851 | M | 215892 | - | Immunodeficiency | Autoinflammation, immune dysregulation, and eosinophilia | PMID:33864888 [S067] | |
| 105859 | F | 215894 |
54 | British | Septicaemia | Immunodeficiency, common variable, 2 | NFKB1 insufficiency | PMID:150198 [Fam.EA:I.2(551)]; PMID:150198 [Fam.EA:I.2(551)]; PMID:34922003 [Fam.A:I.2(A1)]; PMID:34922003 [Fam.A:I.2(A1)] |
| 105871 | M | 215895 | 0 | Immune dysregulation | NFKB1 insufficiency | PMID:33864888 [S024]; PMID:150198 [Fam.DU:517] | |
| 105899 | F | 215900 |
4 | North American | Autoimmunity | NFKB1 insufficiency | PMID:150198 [Fam.DW:II.1(538)]; PMID:34307247 [Fam.1:II.1(daughter1)]; PMID:28802957 [Fam.1:II.1(II.1)] |
| 105946 | M | 215913 |
10 | Caucasian | Septicaemia | NFKB1 insufficiency | PMID:150198 [Fam.EC:II.1(562)]; PMID:36105815 [Fam.R231C:II.1(R231C/2)]; PMID:35003082 [Fam.1:II.1(P2/S.2)]; PMID:34619682 [P.232] |
| 105949 | M | 215913 |
17 | Caucasian | Septicaemia | NFKB1 insufficiency | PMID:150198 [Fam.EC:II.2(563)]; PMID:36105815 [Fam.R231C:II.2(R231C/3)]; PMID:35003082 [Fam.1:II.2(P3/S.3)]; PMID:34619682 [P.233] |
| 105957 | M | 215914 | - | Caucasian | Autoimmunity | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.P:II.2(43)]; PMID:34111452 [P.II.2 (43)] |
| 105977 | F | 215918 |
- | Japanese | Unusual infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:II.2(W.II.2 (56))]; PMID:30048690 [Fam.2:II.2(P2.2)]; PMID:34111452 [W.II.2 (56)]; PMID:35087518 [Fam.15:II.2(15.3)] |
| 106047 | F | 215930 | - | Caucasian | Immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))]; PMID:34111452 [AL.II.1 (86)] |
| 106109 | M | 215952 |
- | Iranian | Autoimmunity | NFKB1 insufficiency | PMID:150198 [Fam.EG:III.4(584)]; PMID:35392793 [Fam.1:III.4(III-1(index))] |
| 106145 | M | 215954 | - | Slovak | Autoimmunity | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:33464451 [P9]; PMID:37419334 [P9(27)] |
| 106153 | F | 215035 |
- | Caucasian | Autoimmunity | T-cell lymphopenia with or without nail dystrophy, AD | PMID:33464451 [Fam.P14:I.1(P17)]; PMID:37419334 [P17(22)] |
| 106155 | M | 215035 |
- | Caucasian | Autoimmunity | T-cell lymphopenia with or without nail dystrophy, AD | PMID:33464451 [Fam.P14:II.2(P16)]; PMID:37419334 [P16(27)] |
| 106178 | M | 215974 |
- | Finnish | Septicaemia | 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 |
- | Finnish | Autoimmunity | NFKB1 insufficiency | PMID:150198 [Fam.FM:III.3(694)]; PMID:36356849 [Fam.2:III.3(F2:III:3)] |
| 106216 | F | 215975 |
- | Finnish | Autoimmunity | NFKB1 insufficiency | PMID:150198 [Fam.FM:IV.2(701)]; PMID:36356849 [Fam.2:IV.2(F2:IV:2)] |
| 106240 | F | 215977 |
- | Caucasian | Septicaemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:IV.14(UU.IV.12 (120))]; PMID:29305966 [Fam.1:IV.2(IV.2)]; PMID:34111452 [AU.IV.12 (120)] |
| 106279 | M | 215977 |
1 | Caucasian | Unusual infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:V.2(UU.V.2 (122))]; PMID:29305966 [Fam.1:V.1(V.1)]; PMID:34111452 [AU.V.2 (122)] |
| 106313 | F | 215982 | 12 | Caucasian | Immunodeficiency | 2q33.1-33.3 deletion syndrome | PMID:29729943 [Chr2_1P1]; PMID:30326257 [previous1] |
| 106328 | F | 215987 |
28 | Italian | Septicaemia | PMID:150198 [Fam.FR:I.2(731)]; PMID:37600787 [Fam.1:I.2(grandmother)] | |
| 106348 | M | 215995 | 62 | Septicaemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [CO.I.1]; PMID:34111452 [CO.I.1 (173)] | |
| 106349 | F | 215996 | 1 | Unusual infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [CM.II.2]; PMID:34111452 [CM.II.2 (171)] | |
| 106358 | M | 216000 |
26 | Japanese | Immune dysregulation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:31993940 [Patient(II.1)] |
| 106371 | M | 216004 |
- | Autoimmunity | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29375547 [Fam.A:II.1(A.II.1)] | |
| 106393 | F | 216006 |
- | German | Septicaemia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [III.3(III.3)] |
| 106415 | F | 216011 |
- | Indian | Atopy | Hyper-IgE recurrent infection syndrome 4A | PMID:38578568 [Fam.1:I.2(mother)] |
| 106456 | F | 216020 |
13 | Chinese (China) | Septicaemia | NFKB1 insufficiency | PMID:150198 [Fam.FS:II.1(737)]; PMID:37705523 [Fam.1:II.1(index)] |
| 106463 | F | 216023 |
- | Japanese | Unusual infection | NFKB1 insufficiency | PMID:150198 [Fam.FX:II.3(779)]; PMID:38514645 [Fam.1:II.3(proband)] |
| 106482 | F | 216035 | - | Egyptian | Septicaemia | Immunodeficiency, common variable, 8 | PMID:32506362 [P17] |
| 106495 | F | 216045 | 1 | Unusual infection | Immunodeficiency, common variable, 8 | PMID:33178652 [Patient] | |
| 106555 | M | 216078 |
10 | Caucasian | Inflammation | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.A:II.1(P1)]; PMID:25075845 [Fam.1:II.2(Young-bro)] |
| 106584 | F | 216082 |
- | Caucasian | Autoimmunity | PMID:26867732 [Fam.E:II.2] | |
| 106594 | F | 216085 | - | Immune dysregulation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34116213 [Fam.A:I.2(mother)] | |
| 106646 | M | 216099 | - | Unusual infection | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34628649 [Patient(III.1)] | |
| 106669 | M | 216103 | - | Unusual infection | NFKB1 insufficiency | PMID:150198 [Fam.EE:565]; PMID:35281075 [5] | |
| 106675 | M | 216105 | - | Egyptian | Immune dysregulation | NFKB1 insufficiency | PMID:150198 [Fam.EH:585]; PMID:35482138 [Fam.139:158] |
| 106750 | F | 216121 |
1 | Palestinian | Septicaemia | T-negative/B-positive SCID type 1 | PMID:32921793 [Fam.B:II.1(P1-B)] |
| 106778 | M | 216129 | - | Egyptian | Immune dysregulation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35482138 [Fam.149:159] |
| 106779 | F | 216130 | - | Egyptian | Immune dysregulation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35482138 [Fam.150:160] |
| 106780 | F | 216131 | - | Egyptian | Immune dysregulation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35482138 [Fam.151:161] |
| 106781 | F | 216132 | - | Egyptian | Immune dysregulation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35482138 [Fam.152:162] |
| 106782 | M | 216133 | - | Egyptian | Immune dysregulation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35482138 [Fam.153:163] |
| 106783 | F | 216134 | - | Egyptian | Immune dysregulation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35482138 [Fam.154:164] |
| 106784 | F | 216135 | - | Egyptian | Immune dysregulation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35482138 [Fam.155:165] |
| 106785 | M | 216136 | - | Egyptian | Immune dysregulation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35482138 [Fam.156:166] |
| 106857 | F | 216173 |
0 | Caucasian | Septicaemia | Adenosine deaminase 2 deficiency | PMID:31008556 [Fam.5:II.2(P6)] |
| 106912 | F | 216186 | 49 | Immune dysregulation | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] | |
| 106957 | F | 216198 | - | Septicaemia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P13] | |
| 107103 | M | 216335 |
1 | Chinese (China) | Inflammation | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:35677041 [Pt1(II.2)] |
| 107208 | F | 216373 |
- | Indian | Inflammation | Adenosine deaminase 2 deficiency | PMID:27059682 [Fam.B:II.1(B1)] |
| 107211 | M | 216373 |
- | Indian | Inflammation | Adenosine deaminase 2 deficiency | PMID:27059682 [Fam.B:II.2(B2)] |
| 107212 | F | 216374 | - | Arab | Immune dysregulation | Combined immunodeficiency 37 | PMID:31775018 [Patient] |
| 107220 | M | 216379 |
- | Swedish | Inflammation | Adenosine deaminase 2 deficiency | PMID:27059682 [Fam.G:II.1(G1)] |
| 107223 | M | 216379 |
- | Swedish | Inflammation | Adenosine deaminase 2 deficiency | PMID:27059682 [Fam.G:II.2(G2)] |
| 107225 | M | 216381 |
- | Vietnamese | Inflammation | Hemophagocytic lymphohistiocytosis, familial 5 | PMID:36503158 [Patient(III.3)] |
| 107300 | F | 216425 | - | Unusual infection | 2q33.1-33.3 deletion syndrome | PMID:30087679 [S1] | |
| 107322 | M | 216439 | - | Chinese (China) | Autoimmunity | Immunodeficiency, common variable, 8 | PMID:34291137 [Fam.B:II.1(P2)] |
| 107376 | F | 216457 | 1 | European | Septicaemia | Leukocyte adhesion deficiency, type I | PMID:37601427 [Patient(I.2)] |
| 107379 | U | 216457 | 1 | European | Septicaemia | PMID:37601427 [Fam.Patient:I.1(Sibiling)] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).