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

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 210008tree icon 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 210197tree icon 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 211221tree icon - 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 211475tree icon - 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 210205tree icon - 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 210220tree icon 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 210314tree icon 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 210401tree icon 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 210220tree icon 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 210220tree icon 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 211089tree icon 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 210925tree icon 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 210260tree icon - 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 210876tree icon 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 215769tree icon 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 211221tree icon - 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 211221tree icon - 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 211221tree icon - 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 214962tree icon 2 Polish Immunodeficiency Immunodeficiency 94 PMID:33517393 [Patient(III.7)]
103076 F 215099tree icon 3 Omani Immunodeficiency Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F5:V.5(P6)]
103113 M 215100tree icon - Iranian Immunodeficiency Seizures, cortical blindness, microcephaly syndrome PMID:36212620 [Patient(II.1)]
104401 M 215523tree icon - Turkish Immunodeficiency Immunodeficiency 114 PMID:36517554 [Pt1(IV.1)]
104842 M 215579tree icon 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 215579tree icon 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 215622tree icon 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 215622tree icon 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 215622tree icon 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 215622tree icon 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 215622tree icon 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 215622tree icon - 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 215622tree icon - 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 215622tree icon 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 215622tree icon 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 215622tree icon 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 215622tree icon - 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 215630tree icon - 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 215639tree icon 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 215643tree icon 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 215647tree icon - 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 215647tree icon - 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 210314tree icon 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 215655tree icon - 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 215666tree icon - 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 215666tree icon 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 215666tree icon 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 215666tree icon 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 215674tree icon 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 215674tree icon 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 215685tree icon 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 215685tree icon 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 215640tree icon 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 215686tree icon 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 215686tree icon 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 215686tree icon 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 215687tree icon 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 215688tree icon - 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 215692tree icon 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 215693tree icon 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 215762tree icon 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 215764tree icon - Chinese (China) Common variable immunodeficiency NFKB1 insufficiency PMID:30363934 [case 3(I.2)]; PMID:150198 [Fam.BN:I.2(303)]
105423 M 215765tree icon - Caucasian Combined immunodeficiency NFKB1 insufficiency PMID:150198 [Fam.BO:II.2(308)]; PMID:30761159 [Fam.1:II.2(patient)]
105432 M 215767tree icon - 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 215768tree icon - 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 215769tree icon - 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 215769tree icon - 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 215770tree icon - 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 215771tree icon - 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 215771tree icon - 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 215772tree icon - 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 215834tree icon - 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 215837tree icon 6 Spanish Common variable immunodeficiency NFKB1 insufficiency PMID:32278790 [Fam.AF:II.1(II.1)]; PMID:150198 [Fam.BY:II.1(363)]
105676 M 215838tree icon 21 Ecuadorian Common variable immunodeficiency NFKB1 insufficiency PMID:32278790 [Fam.AS:II.1(II.1)]; PMID:150198 [Fam.CB:II.1(402)]
105679 M 215839tree icon - Caucasian Common variable immunodeficiency NFKB1 insufficiency PMID:32278790 [Fam.BH:II.2(II.2)]; PMID:150198 [Fam.CD:II.1(409)]
105680 F 215839tree icon - Caucasian Common variable immunodeficiency PMID:32278790 [Fam.BH:I.2(I.1)]; PMID:150198 [Fam.CD:I.2(408)]
105691 M 215841tree icon 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 215842tree icon 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 211370tree icon 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 215852tree icon 2 Dutch Common variable immunodeficiency NFKB1 insufficiency PMID:32278790 [Fam.AM:II.1(II.1)]; PMID:150198 [Fam.CA:II.1(399)]
105748 M 215852tree icon 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 215871tree icon 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 215876tree icon 12 Caucasian Common variable immunodeficiency NFKB1 insufficiency PMID:150198 [Fam.DR:III.1(483)]; PMID:32972988 [Fam.1:II.1(Index)]
105791 F 215877tree icon - Spanish Immunodeficiency Immunodeficiency, common variable, 14 PMID:37876937 [Fam.1:II.1(1.1)]
105794 M 215878tree icon - Spanish Immunodeficiency Immunodeficiency, common variable, 14 PMID:37876937 [Fam.2:II.1(2.1)]
105839 M 215888tree icon 14 Romani Immunodeficiency Immunodeficiency, common variable, 14 PMID:37876937 [Fam.3:II.1(3.1)]
105844 M 215889tree icon - 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 215894tree icon - 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 215900tree icon 43 North American Common variable immunodeficiency NFKB1 insufficiency PMID:150198 [Fam.DW:I.2(537)]; PMID:34307247 [Fam.1:I.2(mother)]
105898 F 215901tree icon - 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 215911tree icon - Combined immunodeficiency NFKB1 insufficiency PMID:150198 [Fam.EB:II.1(559)]; PMID:34922003 [Fam.D:II.1(D1)]
105946 M 215913tree icon - 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 215913tree icon - 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 215921tree icon - Common variable immunodeficiency NFKB1 insufficiency PMID:150198 [Fam.FG:II.2(630)]; PMID:36203612 [Fam.1:II.2(1.II.1)]
105990 F 215921tree icon - Common variable immunodeficiency NFKB1 insufficiency PMID:150198 [Fam.FG:III.1(631)]; PMID:36203612 [Fam.1:III.1(1.III.1)]
105991 M 215922tree icon 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 215951tree icon 4 Iranian Combined immunodeficiency NFKB1 insufficiency PMID:150198 [Fam.FF:II.1(626)]; PMID:36113674 [P5(II.1)]
106109 M 215952tree icon - Iranian Common variable immunodeficiency NFKB1 insufficiency PMID:150198 [Fam.EG:III.4(584)]; PMID:35392793 [Fam.1:III.4(III-1(index))]
106223 M 215976tree icon - 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 215981tree icon 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 215985tree icon 16 Common variable immunodeficiency NFKB1 insufficiency PMID:150198 [Fam.EZ:II.1(612)]; PMID:36105815 [Fam.R284P:II.1(R284P/1)]
106327 M 215987tree icon 11 Italian Common variable immunodeficiency NFKB1 insufficiency PMID:150198 [Fam.FR:III.1(734)]; PMID:37600787 [Fam.1:III.1(index)]
106330 F 215987tree icon 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 216006tree icon - German Immunodeficiency CTLA4 haploinsufficiency with autoimmune infiltration PMID:36273440 [III.3(III.3)]
106401 F 216006tree icon - 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 216010tree icon 42 Chinese (China) Common variable immunodeficiency NFKB1 insufficiency PMID:150198 [Fam.FT:II.2(741)]; PMID:37775675 [Fam.1:II.2(patient)]
106423 F 216015tree icon 11 Common variable immunodeficiency NFKB1 insufficiency PMID:150198 [Fam.FU:III.4(765)]; PMID:38130541 [Fam.1:III.4(P1)]
106445 M 216015tree icon 21 Common variable immunodeficiency NFKB1 insufficiency PMID:150198 [Fam.FU:III.2(763)]; PMID:38130541 [Fam.1:III.2(P2)]
106456 F 216020tree icon 16 Chinese (China) Common variable immunodeficiency NFKB1 insufficiency PMID:150198 [Fam.FS:II.1(737)]; PMID:37705523 [Fam.1:II.1(index)]
106459 M 216021tree icon - Common variable immunodeficiency NFKB1 insufficiency PMID:150198 [Fam.FV:II.1(769)]; GRID:001217 [1(II.1)]; PMID:37895204 [proband]
106460 M 216022tree icon - Chinese (China) Common variable immunodeficiency Immunodeficiency 21 PMID:38028622 [Fam.F11:II.1(index)]
106463 F 216023tree icon 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 216106tree icon - Dutch Common variable immunodeficiency NFKB1 insufficiency PMID:150198 [Fam.ET:II.2(600)]; PMID:36105815 [Fam.G64V:II.2(G64V/2)]
106690 M 216109tree icon - 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 216141tree icon - Combined immunodeficiency Infantile-Onset Multisystem Autoimmune Disease 1 PMID:34619682 [P.265]
106792 F 216141tree icon - Combined immunodeficiency Infantile-Onset Multisystem Autoimmune Disease 1 PMID:34619682 [P.227]
106794 F 216145tree icon - German Common variable immunodeficiency Immunodeficiency, common variable, 14 PMID:34619682 [P.263]; PMID:39059757 [Fam.1:II.2(P2)]
106807 F 216145tree icon 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 216163tree icon 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 216196tree icon - Common variable immunodeficiency NFKB1 insufficiency PMID:150198 [Fam.GB:II.2(797)]; PMID:38901617 [Fam.2:II.2(P2)]
107093 M 216330tree icon 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).