Immunodeficiency
Basic details
Preferred term: Immunodeficiency
Alt. terms: Decreased immune function | Immune deficiency
HPO term: Immunodeficiency
HPO code: HP:0002721
GenIA ID: 2654
Last updated on: 2021-08-02 21:50:33
Cross ref. with other ontologies
NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -
Description
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Hierarchical classification
PARENT terms
TERM
Immunodeficiency
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101015 | M | 210203 | - | German | Common variable immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.MM:II.1]; PMID:29729943 [Fam.MM:II.1(87)]; PMID:34975878 [Fam.F002:P002]; PMID:31857261 [Patient 3] |
101020 | F | 210008![]() |
42 | German | Common variable immunodeficiency | 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] |
101115 | F | 210778 | 19 | Caucasian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427] |
101122 | M | 210197![]() |
21 | Italian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:34975878 [Fam.F073:P073]; PMID:150198 [Fam.DZ:II.2(548)] |
101128 | M | 210897 | - | Caucasian | Common variable immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.OO:II.1(95)]; PMID:37740092 [P07] |
101145 | M | 211221![]() |
- | German | Common variable immunodeficiency | NFKB1 insufficiency | PMID:33995346 [Fam.A:III.5(Pat4)]; PMID:150198 [Fam.DV:III.5(531)]; PMID:36105815 [Fam.Y350C:III.5(Y350C/4)] |
101155 | M | 210235 | - | German | Common variable immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [JJ.II.I]; PMID:29729943 [Fam.JJ:II.1(83)]; PMID:34975878 [Fam.F098:P098] |
101187 | F | 211475![]() |
- | Common variable immunodeficiency | NFKB1 insufficiency | PMID:34975878 [Fam.F119:P119]; PMID:150198 [Fam.FB:II.1(619)]; PMID:36105815 [Fam.G376S:II.1(daughter)] | |
101268 | F | 212145 | - | Iranian | Common variable immunodeficiency | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.D:II.2(P5)]; PMID:29528757 [Case 8]; PMID:26707784 [P5]; PMID:28512785 [P16] |
101286 | F | 212146 | - | Saudi | Combined immunodeficiency | Immunodeficiency, common variable, 8 | PMID:22721650 [Fam.VI:5:V.3]; PMID:25468195 [Fam.C:II.3(P4)]; PMID:26707784 [P8] |
101287 | F | 212146 | - | Saudi | Combined immunodeficiency | Immunodeficiency, common variable, 8 | PMID:22721650 [Fam.VI:5:V.4]; PMID:25468195 [Fam.C:II.4(P5)]; PMID:26707784 [P9] |
101288 | F | 212146 | - | Saudi | Combined immunodeficiency | Immunodeficiency, common variable, 8 | PMID:22721650 [Fam.VI:5:V.5]; PMID:25468195 [Fam.C:II.5(P6)]; PMID:26707784 [P10] |
101296 | M | 210135 | 5 | Arab | Common variable immunodeficiency | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.A:II.3(P1)]; PMID:26707784 [P1] |
101384 | M | 210217 | - | German | Common variable immunodeficiency | NFKB1 insufficiency | PMID:34975878 [Fam.F134:P134]; PMID:32278790 [BN.I.1]; PMID:150198 [Fam.CZ:445]; PMID:36105815 [Y90S] |
101421 | F | 212170 | 6 | Iranian | Immunodeficiency | Immunodeficiency, common variable, 8 | PMID:26707784 [Fam.B:IV.1(P24)]; PMID:26993986 [F5]; PMID:28512785 [P15] |
101425 | M | 210205![]() |
- | Caucasian | Common variable immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.8(A.II.5)]; PMID:29729943 [Fam.A:II.8(A.II.5 (4))]; PMID:27418640 [P7(5)] |
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] |
101451 | F | 212393 | 12 | Iranian | Common variable immunodeficiency | Immunodeficiency, common variable, 8 | PMID:28512785 [P2] |
101461 | M | 210929 | - | German | Common variable immunodeficiency | 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![]() |
27 | German | Common variable immunodeficiency | 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)] |
101479 | F | 210314![]() |
33 | German | Common variable immunodeficiency | 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)] |
101488 | M | 210401![]() |
43 | German | Common variable immunodeficiency | NFKB1 insufficiency | PMID:34975878 [Fam.F163:P163]; PMID:32278790 [CG.I.1]; PMID:150198 [Fam.BW:II.1(350)]; PMID:31857261 [Patient 16] |
101514 | M | 210220![]() |
64 | German | Common variable immunodeficiency | 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)] |
101569 | F | 210220![]() |
39 | German | Common variable immunodeficiency | 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] |
101630 | M | 211089![]() |
23 | German | Common variable immunodeficiency | Immunodeficiency, common variable, 2 | NFKB1 insufficiency | PMID:34975878 [Fam.F219:P219]; PMID:34975878 [Fam.F219:P219]; PMID:32278790 [BR.I.1]; PMID:32278790 [BR.I.1]; PMID:150198 [Fam.DC:II.2(453)]; PMID:150198 [Fam.DC:II.2(453)]; PMID:36105815 [Fam.R214Q:II.2(R214Q/1)]; PMID:36105815 [Fam.R214Q:II.2(R214Q/1)] |
101711 | M | 210925![]() |
4 | Turkish | Common variable immunodeficiency | 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 | Common variable immunodeficiency | 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)] |
101754 | M | 210024 | - | Japanese | Common variable immunodeficiency | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.2(P11)] |
101764 | F | 210031 | - | Dutch | Common variable immunodeficiency | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.656:P19] |
101773 | M | 210876![]() |
12 | German | Common variable immunodeficiency | 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] |
101800 | M | 215769![]() |
13 | Caucasian | Common variable immunodeficiency | 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)] |
101802 | F | 211221![]() |
- | German | Common variable immunodeficiency | NFKB1 insufficiency | PMID:33995346 [Fam.A:III.2(Pat2)]; PMID:150198 [Fam.DV:III.2(528)]; PMID:36105815 [Fam.Y350C:III.2(Y350C/2)] |
101803 | F | 211221![]() |
- | German | Common variable immunodeficiency | NFKB1 insufficiency | PMID:33995346 [Fam.A:II.2(Pat1)]; PMID:150198 [Fam.DV:II.2(521)]; PMID:36105815 [Fam.Y350C:II.2(Y350C/1)] |
101804 | M | 211221![]() |
- | German | Common variable immunodeficiency | NFKB1 insufficiency | PMID:33995346 [Fam.A:IV.1(Pat3)]; PMID:150198 [Fam.DV:IV.1(533)]; PMID:36105815 [Fam.Y350C:IV.1(Y350C/3)] |
101814 | F | 211527 | 69 | German | Common variable immunodeficiency | NFKB1 insufficiency | PMID:34975878 [Fam.F274:P274]; PMID:32278790 [AK.I.1]; PMID:150198 [Fam.CP:435] |
102157 | F | 214681 | - | Caucasian | Common variable immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:II.5(45)] |
102222 | M | 214917 | 35 | German | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C] |
102466 | M | 214962![]() |
2 | Polish | Immunodeficiency | Immunodeficiency 94 | PMID:33517393 [Patient(III.7)] |
103076 | F | 215099![]() |
3 | Omani | Immunodeficiency | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.5(P6)] |
103113 | M | 215100![]() |
- | Iranian | Immunodeficiency | Seizures, cortical blindness, microcephaly syndrome | PMID:36212620 [Patient(II.1)] |
104401 | M | 215523![]() |
- | Turkish | Immunodeficiency | Immunodeficiency 114 | PMID:36517554 [Pt1(IV.1)] |
104842 | M | 215579![]() |
2 | European | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.NZ:II.1(II.1)]; PMID:26279205 [Fam.NZ:II.1(II1)]; PMID:29403474 [Fam.NZ (5):II.1(II1)]; PMID:29806948 [Fam.NZ:II.1(II.1)]; PMID:30323807 [Fam.2:II.1(II.1)]; PMID:150198 [Fam.AC:II.1(108)] |
104845 | F | 215579![]() |
20 | European | Common variable immunodeficiency | 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)] |
104932 | F | 215622![]() |
65 | Dutch | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.NA:II.16(II.16)]; PMID:26279205 [Fam.NL1:II.20(18)]; PMID:29403474 [Fam.NL1 (5):II.20(18)]; PMID:11583829 [Fam.1:II.19(II:19)]; PMID:16639407 [Fam.1:II.20(18)]; PMID:150198 [Fam.AA:II.20(022)] |
104942 | F | 215622![]() |
38 | Dutch | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.18(III.18)]; PMID:26279205 [Fam.NL1:III.19(57)]; PMID:29403474 [Fam.NL1 (5):III.19(57)]; PMID:150198 [Fam.AA:III.19(045)]; PMID:35242131 [Fam.2:I.1(P2)] |
104953 | F | 215622![]() |
59 | Dutch | Common variable immunodeficiency | 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![]() |
46 | Dutch | Common variable immunodeficiency | 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)] |
104957 | M | 215622![]() |
57 | Dutch | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.NA:II.20(II.20)]; PMID:26279205 [Fam.NL1:II.23(21)]; PMID:29403474 [Fam.NL1 (5):II.23(21)]; PMID:11583829 [Fam.1:II.23(II:23)]; PMID:16639407 [Fam.1:II.23(21)]; PMID:150198 [Fam.AA:II.23(025)] |
104962 | F | 215622![]() |
- | Dutch | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.3(III.3)]; PMID:26279205 [Fam.NL1:III.4(25)]; PMID:29403474 [Fam.NL1 (5):III.4(25)]; PMID:11583829 [Fam.1:III.3(III:3)]; PMID:16639407 [Fam.1:III.4(25)]; PMID:150198 [Fam.AA:III.4(030)] |
104970 | M | 215622![]() |
- | Dutch | Common variable immunodeficiency | 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)] |
104972 | F | 215622![]() |
30 | Dutch | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.14(III.14)]; PMID:26279205 [Fam.NL1:III.14(36)]; PMID:29403474 [Fam.NL1 (5):III.14(36)]; PMID:11583829 [Fam.1:III.14(III:14)]; PMID:16639407 [Fam.1:III.14(36)]; PMID:27923702 [Patient 4]; PMID:27555455 [Patient 2]; PMID:150198 [Fam.AA:III.14(040)] |
104989 | F | 215622![]() |
2 | Dutch | Common variable immunodeficiency | 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)] |
104994 | F | 215622![]() |
29 | Dutch | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.NA:IV.11(IV.10)]; PMID:26279205 [Fam.NL1:IV.13(62)]; PMID:29403474 [Fam.NL1 (5):IV.13(62)]; PMID:150198 [Fam.AA:IV.14(070)]; PMID:35242131 [Fam.2.:II.1(P9)] |
105007 | F | 215622![]() |
- | Dutch | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.NA:III.26(III.26)]; PMID:26279205 [Fam.NL1:III.28(40)]; PMID:29403474 [Fam.NL1 (5):III.28(40)]; PMID:11583829 [Fam.1:III.18(III:18)]; PMID:16639407 [Fam.1:III.19(40)]; PMID:150198 [Fam.AA:III.28(054)] |
105043 | F | 215630![]() |
- | Caucasian | Common variable immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P9(II.1)]; PMID:29729943 [Fam.BBB:II.1(BBB.II.1 (131))] |
105088 | M | 215638 | -,24 | Japanese | Common variable immunodeficiency,Immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:26644313 [II.3(II.3)]; PMID:30250467 [M.II.3]; PMID:29729943 [Fam.M:II.3(M.II.3 (37))]; PMID:27418640 [P21(II.3)]; PMID:35087518 [11.1] |
105093 | F | 215639![]() |
19 | Israeli | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.AA:II.2(II.2)]; PMID:29403474 [Patient 2 (8)]; PMID:27365489 [Fam.2:II.2(Pat.2)]; PMID:150198 [Fam.AF:II.2(127)] |
105105 | F | 215643![]() |
15 | Caucasian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.AB:II.1(II.1)]; PMID:29403474 [Fam.(7):II.1(Index)]; PMID:27338827 [Fam.1:II.1(II-1)]; PMID:150198 [Fam.AD:II.1(117)] |
105110 | M | 215644 | - | Common variable immunodeficiency | NFKB1 insufficiency | PMID:27379089 [P3]; PMID:32278790 [U.I.3]; PMID:29403474 [Patient 3 (10)]; PMID:150198 [Fam.AH:145] | |
105111 | F | 215645 | - | Common variable immunodeficiency | NFKB1 insufficiency | PMID:27379089 [P4]; PMID:32278790 [AR.I.4]; PMID:29403474 [Patient 4 (10)]; PMID:150198 [Fam.AI:146] | |
105112 | F | 215646 | 7 | Common variable immunodeficiency | NFKB1 insufficiency | PMID:27379089 [P5]; PMID:32278790 [BM.I.5]; PMID:29403474 [Patient 5 (10)]; PMID:150198 [Fam.AJ:147] | |
105129 | M | 215647![]() |
- | Common variable immunodeficiency | 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![]() |
- | Common variable immunodeficiency | 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)] | |
105131 | M | 215648 | 7 | Italian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [BG.I.1]; PMID:29403474 [Patient 1 (6)]; PMID:27923702 [Patient 1]; PMID:27555455 [Patient 1]; PMID:150198 [Fam.AN:160] |
105142 | M | 210314![]() |
43 | German | Common variable immunodeficiency | 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 | 30 | German | Common variable immunodeficiency | 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 | Common variable immunodeficiency | 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] |
105197 | M | 215666![]() |
- | Finnish | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.3(III.3)]; PMID:29403474 [Fam.1 (9):III.3(F1.III-3)]; PMID:28115215 [Fam.1:III.3(F1.III-3)]; PMID:150198 [Fam.AQ:III.3(177)]; PMID:36356849 [Fam.6:III.3(F6:III:3)]; PMID:36105815 [Fam.H67R:III.3(H67R/4)] |
105212 | F | 215666![]() |
44 | Finnish | Common variable immunodeficiency | 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)] |
105218 | F | 215666![]() |
25 | Finnish | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.6(III.6)]; PMID:29403474 [Fam.1 (9):III.6(F1.III-6)]; PMID:28115215 [Fam.1:III.6(F1.III-6)]; PMID:150198 [Fam.AQ:III.6(180)]; PMID:36356849 [Fam.6:III.6(F6:III:6)]; PMID:36105815 [Fam.H67R:III.6(H67R/5)] |
105220 | F | 215666![]() |
15 | Finnish | Common variable immunodeficiency | 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)] |
105245 | M | 215674![]() |
50 | Caucasian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.AN:II.2(II.1)]; PMID:29403474 [Fam.(12):I.1(P9.1)]; PMID:28983403 [Fam.1:I.1(P9.1)]; PMID:150198 [Fam.AT:II.1(223)] |
105246 | M | 215674![]() |
10 | Caucasian | Common variable immunodeficiency | 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)] |
105279 | F | 215685![]() |
43 | European | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.B:II.1(II.1)]; PMID:29477724 [Fam.B:II.1(II:1)]; PMID:150198 [Fam.AV:II.1(244)] |
105280 | M | 215685![]() |
28 | European | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.B:I.1(I.1)]; PMID:29477724 [Fam.B:I.1(I:1)]; PMID:150198 [Fam.AV:I.1(242)] |
105287 | F | 215640![]() |
52 | European | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.A:II.4(II.4)]; PMID:29477724 [Fam.A:II.4(II:4)]; PMID:150198 [Fam.AU:II.5(233)] |
105296 | F | 215686![]() |
52 | European | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.C:I.2(I.2)]; PMID:29477724 [Fam.C:I.2(I:2)]; PMID:150198 [Fam.AW:I.2(246)] |
105301 | M | 215686![]() |
16 | European | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.C:II.4(II.3)]; PMID:29477724 [Fam.C:II.4(II:3)]; PMID:150198 [Fam.AW:II.3(249)] |
105302 | M | 215686![]() |
13 | European | Common variable immunodeficiency | 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)] |
105308 | F | 215687![]() |
18 | European | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.D:II.2(II.2)]; PMID:29477724 [Fam.D:II.2(II:2)]; PMID:150198 [Fam.AX:II.2(260)] |
105313 | M | 215688![]() |
- | European | Common variable immunodeficiency | 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 | 54 | European | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [F.II.1]; PMID:29477724 [Fam.F:II.1(II:1)]; PMID:150198 [Fam.AZ:265]; PMID:36105815 [V98D] |
105315 | F | 215690 | 21 | European | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [G.II.1]; PMID:29477724 [Fam.G:II.1(II:1)]; PMID:150198 [Fam.BA:266]; PMID:36105815 [I87S] |
105316 | U | 215691 | 24 | European | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [H.II.1]; PMID:29477724 [Fam.H:II.1(II:1)]; PMID:150198 [Fam.BB:267] |
105317 | M | 215692![]() |
35 | European | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.J:III.2(III.2)]; PMID:29477724 [Fam.J:III.2(III:2)]; PMID:150198 [Fam.BD:III.2(277)] |
105328 | F | 215693![]() |
22 | European | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.L:II.1(II.1)]; PMID:29477724 [Fam.L:II.1(II:1)]; PMID:150198 [Fam.BF:II.1(283)] |
105332 | U | 215694 | 27 | European | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [M.II.1]; PMID:29477724 [Fam.M:II.1(II:1)]; PMID:150198 [Fam.BG:285] |
105333 | F | 215695 | 56 | European | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [N.II.1]; PMID:29477724 [Fam.N:II.1(II:1)]; PMID:150198 [Fam.BH:286] |
105334 | F | 215696 | 23 | Indian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [O.II.1]; PMID:29477724 [Fam.O:II.1(II:1)]; PMID:150198 [Fam.BI:287] |
105335 | U | 215697 | 43 | European | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [P.II.1]; PMID:29477724 [Fam.P:II.1(II:1)]; PMID:150198 [Fam.BJ:288] |
105337 | U | 215699 | 18 | European | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [I.II.1]; PMID:29477724 [Fam.I:II.1(I:II-1)]; PMID:150198 [Fam.BC:268] |
105338 | U | 215700 | 44 | European | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [K.II.1]; PMID:29477724 [Fam.K:II.1(II:1)]; PMID:150198 [Fam.BE:280] |
105349 | F | 215711 | 4 | Immunodeficiency | Combined immunodeficiency with skin-hair depigmentation | PMID:29408330 [P2] | |
105412 | F | 215762![]() |
11 | Caucasian | Common variable immunodeficiency | 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)] |
105416 | F | 215764![]() |
- | Chinese (China) | Common variable immunodeficiency | NFKB1 insufficiency | PMID:30363934 [case 3(I.2)]; PMID:150198 [Fam.BN:I.2(303)] |
105423 | M | 215765![]() |
- | Caucasian | Combined immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.BO:II.2(308)]; PMID:30761159 [Fam.1:II.2(patient)] |
105432 | M | 215767![]() |
- | Caucasian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.BR:II.1(316)]; PMID:31803180 [Fam.A:II.1(S1)]; PMID:34619682 [P.200] |
105433 | F | 215768![]() |
- | Danish | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [AQ.I.1]; PMID:150198 [Fam.BX:II.2(359)]; PMID:32047491 [P2(I.1)]; PMID:36105815 [N323Y] |
105437 | M | 215769![]() |
- | Caucasian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.AT:II.3(II.3)]; PMID:150198 [Fam.BT:III.3(329)]; PMID:31803180 [Fam.C:II.3(S5)]; PMID:34619682 [P.183] |
105446 | M | 215769![]() |
- | Caucasian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.AT:II.2(II.2)]; PMID:150198 [Fam.BT:III.4(330)]; PMID:31803180 [Fam.C:II.4(S6)]; PMID:34619682 [P.114] |
105450 | F | 215770![]() |
- | Caucasian | Common variable immunodeficiency | 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] |
105453 | M | 215771![]() |
- | Caucasian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [BO.I.2]; PMID:150198 [Fam.BV:II.3(342)]; PMID:31803180 [Fam.E:II.3(S8)]; PMID:36105815 [Fam.R157P:II.3(S8)] |
105458 | M | 215771![]() |
- | Caucasian | Common variable immunodeficiency | 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] |
105463 | M | 215772![]() |
- | Russian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [AO.I.1]; PMID:150198 [Fam.BS:I.1(317)]; PMID:31803180 [Fam.B:I.1(S2)]; PMID:34619682 [P.122] |
105533 | M | 215791 | - | Portuguese | Humoral immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29225858 [Patient(I.1)] |
105649 | F | 215834![]() |
- | Spanish | Common variable immunodeficiency | NFKB1 insufficiency | PMID:29867916 [N234]; PMID:32278790 [Fam.AV:II.1(II.1)]; PMID:150198 [Fam.BL:II.1(294)] |
105671 | M | 215837![]() |
6 | Spanish | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.AF:II.1(II.1)]; PMID:150198 [Fam.BY:II.1(363)] |
105676 | M | 215838![]() |
21 | Ecuadorian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.AS:II.1(II.1)]; PMID:150198 [Fam.CB:II.1(402)] |
105679 | M | 215839![]() |
- | Caucasian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.BH:II.2(II.2)]; PMID:150198 [Fam.CD:II.1(409)] |
105680 | F | 215839![]() |
- | Caucasian | Common variable immunodeficiency | PMID:32278790 [Fam.BH:I.2(I.1)]; PMID:150198 [Fam.CD:I.2(408)] | |
105691 | M | 215841![]() |
15 | Australian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.W:I.1(W.I.1)]; PMID:150198 [Fam.CF:I.1(418)] |
105694 | F | 215842![]() |
6 | German | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.Y:II.1(Y.II.1)]; PMID:150198 [Fam.CG:II.1(423)] |
105714 | M | 211370![]() |
12 | Turkish | Common variable immunodeficiency | 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 | 7 | Russian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Q.I.1]; PMID:150198 [Fam.CH:424] |
105741 | F | 215846 | 13 | Indian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [T.I.1]; PMID:150198 [Fam.CJ:426] |
105742 | F | 215847 | 16 | Brasilian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [AD.I.1]; PMID:150198 [Fam.CL:428] |
105744 | M | 215849 | 7 | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [AG.I.1]; PMID:150198 [Fam.CN:433] | |
105747 | F | 215852![]() |
2 | Dutch | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.AM:II.1(II.1)]; PMID:150198 [Fam.CA:II.1(399)] |
105748 | M | 215852![]() |
49 | Dutch | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [Fam.AM:I.1(I.1)]; PMID:150198 [Fam.CA:I.1(397)] |
105750 | M | 215853 | 16 | North American | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [AP.I.1]; PMID:150198 [Fam.CQ:436] |
105751 | M | 215854 | 15 | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [AW.I.1]; PMID:150198 [Fam.CR:437] | |
105752 | M | 215855 | 10 | Russian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [AX.I.1]; PMID:150198 [Fam.CS:438] |
105753 | F | 215856 | 57 | German | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [AY.I.1]; PMID:150198 [Fam.CT:439] |
105754 | F | 215857 | 37 | Asian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [AZ.I.1]; PMID:150198 [Fam.CU:440] |
105758 | M | 215861 | 3 | Iranian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [BM.I.1]; PMID:150198 [Fam.CY:444]; PMID:36105815 [BM.I.1] |
105762 | F | 215863 | - | Iranian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [BP.I.1]; PMID:150198 [Fam.DA:446] |
105773 | M | 215866 | 63 | German | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [BU.I.1]; PMID:150198 [Fam.DF:463]; PMID:36105815 [A245V] |
105774 | F | 215867 | - | German | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [BV.I.1]; PMID:150198 [Fam.DG:464]; PMID:36105815 [P246T] |
105775 | F | 215868 | 26 | German | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [BX.I.1]; PMID:150198 [Fam.DI:466]; PMID:36105815 [Y286N] |
105776 | M | 215869 | 8 | Iranian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [BZ.I.1]; PMID:150198 [Fam.DK:468]; PMID:36105815 [Fam.K326N/BZ:K326N/1] |
105778 | F | 215871![]() |
7 | Spanish | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [CB.I.1]; PMID:150198 [Fam.DM:II.1(472)]; PMID:36105815 [Fam.G386R:II.1(G386R/1)] |
105779 | F | 215872 | - | Turkish | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [CC.I.1]; PMID:150198 [Fam.DN:474] |
105780 | F | 215873 | 22 | German | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [CD.I.1]; PMID:150198 [Fam.DO:475] |
105783 | F | 215876![]() |
12 | Caucasian | Common variable immunodeficiency | 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)] |
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)] |
105851 | M | 215892 | - | Immunodeficiency | Autoinflammation, immune dysregulation, and eosinophilia | PMID:33864888 [S067] | |
105859 | F | 215894![]() |
- | British | Common variable immunodeficiency | 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)] |
105894 | F | 215900![]() |
43 | North American | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.DW:I.2(537)]; PMID:34307247 [Fam.1:I.2(mother)] |
105898 | F | 215901![]() |
- | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.DY:II.1(544)]; PMID:34825039 [Fam.1:II.1(index)] | |
105917 | M | 215907 | 39 | Common variable immunodeficiency | NFKB1 insufficiency | PMID:32278790 [BW.I.1]; PMID:150198 [Fam.DH:465] | |
105935 | F | 215911![]() |
- | Combined immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.EB:II.1(559)]; PMID:34922003 [Fam.D:II.1(D1)] | |
105946 | M | 215913![]() |
- | Caucasian | Common variable immunodeficiency | 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![]() |
- | Caucasian | Common variable immunodeficiency | 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] |
105968 | M | 215916 | - | Japanese | Common variable immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.U:II.1(U.II.1 (50))]; PMID:30048690 [Fam.1:II.1(P1.2)]; PMID:35087518 [Fam.13:II.1(13.2)] |
105977 | F | 215918 | - | Japanese | Common variable immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:II.2(W.II.2 (56))]; PMID:30048690 [Fam.2:II.2(P2.2)]; PMID:35087518 [Fam.15:II.2(15.3)] |
105986 | F | 215921![]() |
- | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.FG:II.2(630)]; PMID:36203612 [Fam.1:II.2(1.II.1)] | |
105990 | F | 215921![]() |
- | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.FG:III.1(631)]; PMID:36203612 [Fam.1:III.1(1.III.1)] | |
105991 | M | 215922![]() |
55 | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.FH:II.1(634)]; PMID:36203612 [Fam.2:II.2(2.II.1)] | |
106023 | M | 215923 | - | Japanese | Common variable immunodeficiency | 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 | Common variable immunodeficiency | 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 | Common variable immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.EE:II.1(EE.II.1 (76))] |
106044 | F | 215929 | - | Caucasian | Common variable immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.KK:II.1(KK.II.1 (85))] |
106047 | F | 215930 | - | Caucasian | Immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))] |
106048 | M | 210991 | - | Caucasian | Common variable immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:I.1(NN.I.1 (88))] |
106068 | M | 215931 | - | Caucasian | Common variable immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.PP:II.1(PP.II.1 (96))] |
106070 | F | 215933 | - | Caucasian | Common variable immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.SS:II.1(SS.II.1 (99))] |
106100 | F | 215949 | - | Caucasian | Common variable immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.DDD:II.1(DDD.II.1 (133))]; PMID:30048690 [Fam.3:II.1(P3.2)] |
106105 | M | 215950 | - | Caucasian | Common variable immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.CCC:II.1(CCC.II.1 (132))] |
106106 | F | 215951![]() |
4 | Iranian | Combined immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.FF:II.1(626)]; PMID:36113674 [P5(II.1)] |
106109 | M | 215952![]() |
- | Iranian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.EG:III.4(584)]; PMID:35392793 [Fam.1:III.4(III-1(index))] |
106223 | M | 215976![]() |
- | Finnish | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.FN:II.1(710)]; PMID:36356849 [Fam.4:II.1(F4:II:1)]; PMID:38593810 [Fam.3:II.1(F3.II-1)] |
106240 | F | 215977 | - | Caucasian | Common variable immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:IV.14(UU.IV.12 (120))]; PMID:29305966 [IV.2(IV.2)] |
106242 | F | 215977 | - | Caucasian | Common variable immunodeficiency | PMID:29729943 [Fam.UU:II.4(UU.II.2 (106))]; PMID:29305966 [Fam.IV.2:II.2(II.1)] | |
106259 | F | 215977 | - | Caucasian | Common variable immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.2(UU.III.2 (107))]; PMID:29305966 [Fam.IV.2:III.12(III.4)] |
106279 | M | 215977 | - | Caucasian | Common variable immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:V.2(UU.V.2 (122))]; PMID:29305966 [Fam.IV.2:V.1(V.1)] |
106304 | M | 215981![]() |
50 | Chinese (China) | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.FO:II.5(717)]; PMID:36571238 [Fam.1:II.5(II:5[P1])] |
106313 | F | 215982 | -,12 | Caucasian | Common variable immunodeficiency,Immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P1] |
106314 | M | 215983 | 14,- | Caucasian | Common variable immunodeficiency,Immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P2] |
106320 | M | 215984 | - | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.EX:608]; PMID:36105815 [L196V] | |
106323 | M | 215985![]() |
16 | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.EZ:II.1(612)]; PMID:36105815 [Fam.R284P:II.1(R284P/1)] | |
106327 | M | 215987![]() |
11 | Italian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.FR:III.1(734)]; PMID:37600787 [Fam.1:III.1(index)] |
106330 | F | 215987![]() |
30 | Italian | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.FR:II.2(733)]; PMID:37600787 [Fam.1:II.2(mother)] |
106347 | M | 215994 | - | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.EY:609]; PMID:36105815 [R198C] | |
106348 | M | 215995 | 38 | Immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [CO.I.1(I.1)]; PMID:34111452 [CO.I.1 (173)] | |
106349 | F | 215996 | 14 | Immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.CM:II.2(CM.II.2)]; PMID:34111452 [CM.II.2 (171)] | |
106390 | M | 216005 | - | Combined immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:32996901 [Patient(II.1)] | |
106393 | F | 216006![]() |
- | German | Immunodeficiency | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [III.3(III.3)] |
106401 | F | 216006![]() |
- | German | Combined immunodeficiency | PMID:36273440 [Fam.III.3:III.1] | |
106406 | M | 216007 | 26 | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.FK:662]; PMID:35242131 [P1] | |
106409 | M | 216010![]() |
42 | Chinese (China) | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.FT:II.2(741)]; PMID:37775675 [Fam.1:II.2(patient)] |
106423 | F | 216015![]() |
11 | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.FU:III.4(765)]; PMID:38130541 [Fam.1:III.4(P1)] | |
106445 | M | 216015![]() |
21 | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.FU:III.2(763)]; PMID:38130541 [Fam.1:III.2(P2)] | |
106456 | F | 216020![]() |
16 | Chinese (China) | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.FS:II.1(737)]; PMID:37705523 [Fam.1:II.1(index)] |
106459 | M | 216021![]() |
- | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.FV:II.1(769)]; GRID:001217 [1(II.1)]; PMID:37895204 [proband] | |
106460 | M | 216022![]() |
- | Chinese (China) | Common variable immunodeficiency | Immunodeficiency 21 | PMID:38028622 [Fam.F11:II.1(index)] |
106463 | F | 216023![]() |
29 | Japanese | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.FX:II.3(779)]; PMID:38514645 [Fam.1:II.3(proband)] |
106669 | M | 216103 | - | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.EE:565]; PMID:35281075 [5] | |
106679 | F | 216106![]() |
- | Dutch | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.ET:II.2(600)]; PMID:36105815 [Fam.G64V:II.2(G64V/2)] |
106690 | M | 216109![]() |
- | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.FA:II.1(615)]; PMID:36105815 [S372L(II.1)] | |
106786 | M | 216137 | - | Common variable immunodeficiency | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.154] | |
106787 | M | 216138 | - | Combined immunodeficiency | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.278] | |
106788 | F | 216139 | - | Common variable immunodeficiency | Immunodeficiency, common variable, 8 | PMID:34619682 [P.71] | |
106789 | M | 216140 | - | Common variable immunodeficiency | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.282] | |
106790 | M | 216141![]() |
- | Combined immunodeficiency | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.265] | |
106792 | F | 216141![]() |
- | Combined immunodeficiency | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.227] | |
106794 | F | 216145![]() |
- | German | Common variable immunodeficiency | Immunodeficiency, common variable, 14 | PMID:34619682 [P.263]; PMID:39059757 [Fam.1:II.2(P2)] |
106807 | F | 216145![]() |
14 | German | Common variable immunodeficiency | Immunodeficiency, common variable, 14 | PMID:34619682 [P.159]; PMID:39059757 [Fam.1:II.1(P1)] |
106811 | M | 216157 | 25 | German | Common variable immunodeficiency | Immunodeficiency, common variable, 14 | PMID:39059757 [P3] |
106812 | F | 216158 | 16 | Common variable immunodeficiency | Immunodeficiency, common variable, 14 | PMID:39059757 [P4] | |
106819 | M | 216163![]() |
54 | Chinese (China) | Common variable immunodeficiency | Immunodeficiency, common variable, 1 | PMID:36571238 [Fam.2:II.2(II:2[P3])] |
106912 | F | 216186 | - | Common variable immunodeficiency | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] | |
106953 | M | 216195 | 7 | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.GA:793]; PMID:38901617 [Fam.1:I.1(P1)] | |
106954 | M | 216196![]() |
- | Common variable immunodeficiency | NFKB1 insufficiency | PMID:150198 [Fam.GB:II.2(797)]; PMID:38901617 [Fam.2:II.2(P2)] | |
107093 | M | 216330![]() |
44 | Japanese | Common variable immunodeficiency | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [Fam.1:I.1(P1.1)] |
107246 | M | 216395 | 6 | Caucasian | Common variable immunodeficiency | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30809743 [Pt#1] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).