Decreased lymphocyte proliferation in response to mitogens
Basic details
Preferred term: Decreased lymphocyte proliferation in response to mitogens
Alt. terms: Reduced lymphocyte proliferation to mitogens
HPO term: Decreased lymphocyte proliferation in response to mitogen
HPO code: HP:0031381
GenIA ID: 11760
Last updated on: 2024-04-11 11:51:19
Cross ref. with other ontologies
NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -
Description
A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA, anti-CD3, PWM, etc).
Hierarchical classification
PARENT terms
TERM
Decreased lymphocyte proliferation in response to mitogens
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101015 | M | 210203 | - | German | Abnormal lymphoproliferation | 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] |
101037 | M | 210182![]() |
- | Caucasian | Abnormal lymphoproliferation | 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)] |
101038 | F | 210182![]() |
- | Caucasian | Abnormal lymphoproliferation | 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)] |
101040 | F | 210724![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.GG:II.1(79)]; PMID:31857261 [Patient 15] |
101043 | M | 210725![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.H:II.2(30)]; PMID:34975878 [Fam.F017:P017] |
101045 | M | 210205![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:III.13(A.III.3)]; PMID:29729943 [Fam.A:III.3(9)]; PMID:34975878 [Fam.F018:III.2(P018)]; PMID:27418640 [P11(5)] |
101051 | F | 210205![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:III.5(A.III.1)]; PMID:30250467 [A.III.1]; PMID:29729943 [Fam.A:III.5(A.III.1 (8))]; PMID:34975878 [Fam.F018:III.1(P021)]; PMID:27418640 [P10(5)] |
101077 | F | 210211 | - | German | Abnormal lymphoproliferation | PMID:34975878 [Fam.F043:P043] | |
101091 | M | 210911 | - | Abnormal lymphoproliferation | DiGeorge syndrome | PMID:34975878 [Fam.F057:P057]; PMID:35486341 [P180] | |
101116 | M | 210282![]() |
- | German | Abnormal lymphoproliferation | Immunodeficiency, common variable, 1 | PMID:12577056 [Fam.A:II.2(P2)]; PMID:16384931 [Fam.A:II.3(P2)]; PMID:19426217 [Fam.A:II.2(P2)]; PMID:28861081 [Fam.1:II.2(P2)]; PMID:35486341 [P005] |
101118 | F | 210735 | - | Abnormal lymphoproliferation | Thrombophilia due to Factor V Leiden | PMID:31057532 [Fam.C:II.1] | |
101119 | M | 210264 | - | Abnormal lymphoproliferation | PMID:34975878 [Fam.F070:P070] | ||
101120 | M | 210221 | - | German | Abnormal lymphoproliferation | PMID:34975878 [Fam.F071:P071] | |
101122 | M | 210197![]() |
23 | Italian | Abnormal lymphoproliferation | NFKB1 insufficiency | PMID:34975878 [Fam.F073:P073]; PMID:150198 [Fam.DZ:II.2(548)] |
101123 | M | 210255 | - | Abnormal lymphoproliferation | PMID:34975878 [Fam.F074:P074] | ||
101128 | M | 210897 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.OO:II.1(95)]; PMID:37740092 [P07] |
101145 | M | 211221![]() |
42 | German | Decreased lymphocyte proliferation in response to mitogen: SAC | NFKB1 insufficiency | PMID:33995346 [Fam.A:III.5(Pat4)]; PMID:150198 [Fam.DV:III.5(531)]; PMID:36105815 [Fam.Y350C:III.5(Y350C/4)] |
101150 | F | 210736 | 7 | Abnormal lymphoproliferation | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F093:P093] | |
101155 | M | 210235 | - | German | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [JJ.II.I]; PMID:29729943 [Fam.JJ:II.1(83)]; PMID:34975878 [Fam.F098:P098] |
101199 | F | 211483 | - | German | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.YY:II.1(127)]; PMID:34975878 [Fam.F122:P122] |
101286 | F | 212146 | - | Saudi | Decreased lymphocyte proliferation in response to mitogen: anti-CD3 | 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 | Decreased lymphocyte proliferation in response to mitogen: anti-CD3 | 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 | Decreased lymphocyte proliferation in response to mitogen: anti-CD3 | Immunodeficiency, common variable, 8 | PMID:22721650 [Fam.VI:5:V.5]; PMID:25468195 [Fam.C:II.5(P6)]; PMID:26707784 [P10] |
101336 | M | 212152 | - | Omani | Abnormal lymphoproliferation | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.3 :II.1] |
101401 | F | 210205![]() |
- | Caucasian | Abnormal lymphoproliferation | 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)] |
101425 | M | 210205![]() |
- | Caucasian | Abnormal lymphoproliferation | 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)] |
101458 | F | 210656![]() |
- | Georgian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.E:II.3(E.II.3)]; PMID:29729943 [Fam.E:II.3(E.II.3 (23))]; PMID:27418640 [P19(5)] |
101578 | M | 210205![]() |
- | German | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.14(A.II.8)]; PMID:29729943 [Fam.A:II.14(A.II.8 (5))]; PMID:27418640 [P8(5)] |
101613 | F | 210737 | 6 | Abnormal lymphoproliferation | PMID:34975878 [Fam.F210:P210] | ||
101717 | F | 210260![]() |
- | Caucasian | Abnormal lymphoproliferation | 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)] |
101722 | F | 210261![]() |
- | Asian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.D:II.1(D.II.1)]; PMID:29729943 [Fam.D:II.1(D.II.1 (22))]; PMID:27418640 [P18(5)] |
101744 | F | 210182![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:III.2(B.III.2)]; PMID:29729943 [Fam.B:III.3(B.III.2 (17))]; PMID:27418640 [P15(5)] |
101792 | M | 210991 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.11(NN.II.9(92))] |
101797 | M | 211108 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.QQ:II.1(97)]; PMID:34975878 [Fam.F258:P258] |
101799 | M | 211120 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.XX:II.1]; PMID:29729943 [Fam.XX:II.1(126)] |
101800 | M | 215769![]() |
- | Caucasian | Abnormal lymphoproliferation | 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![]() |
38 | German | Decreased lymphocyte proliferation in response to mitogen: SAC | 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![]() |
69 | German | Decreased lymphocyte proliferation in response to mitogen: SAC | 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![]() |
4 | German | Decreased lymphocyte proliferation in response to mitogen: SAC | NFKB1 insufficiency | PMID:33995346 [Fam.A:IV.1(Pat3)]; PMID:150198 [Fam.DV:IV.1(533)]; PMID:36105815 [Fam.Y350C:IV.1(Y350C/3)] |
102157 | F | 214681 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:II.5(45)] |
102175 | M | 210725![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)] |
102224 | F | 214919 | - | German | Abnormal lymphoproliferation | DiGeorge syndrome | PMID:35486341 [P017] |
102260 | F | 214926![]() |
- | Mexican | Decreased lymphocyte proliferation in response to mitogens | ARPC1B deficiency | PMID:32683750 [Fam.case:II.2(sister)]; PMID:36708766 [Fam.A:II.2(P1)] |
102637 | M | 214972![]() |
24 | Abnormal lymphoproliferation | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.4:II.2(P4)] | |
102969 | U | 215061 | 0 | North American | Decreased lymphocyte proliferation in response to mitogens | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P4]; PMID:37419334 [P4] |
102971 | U | 215063 | 0 | North American | Decreased lymphocyte proliferation in response to mitogens | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P6]; PMID:37419334 [P6] |
102972 | U | 215064 | 1 | North American | Decreased lymphocyte proliferation in response to mitogens | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P7]; PMID:37419334 [P7] |
102980 | U | 215072 | 0 | North American | Decreased lymphocyte proliferation in response to mitogens | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P15]; PMID:37419334 [P15] |
103051 | M | 215095![]() |
- | Finnish | Decreased lymphocyte proliferation in response to mitogens | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F1:II.7(P1)] |
103061 | M | 215095![]() |
- | Finnish | Decreased lymphocyte proliferation in response to mitogens | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F1:II.9(P2)] |
103062 | M | 215096![]() |
- | Finnish | Decreased lymphocyte proliferation in response to mitogens | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F2:II.2(P3)] |
103076 | F | 215099![]() |
2 | Omani | Decreased lymphocyte proliferation in response to mitogens | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.5(P6)] |
103110 | M | 215099![]() |
3 | Omani | Decreased lymphocyte proliferation in response to mitogens | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.2(P7)] |
104540 | M | 215549![]() |
- | North African | Abnormal lymphoproliferation | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.F:II.1(Patient F)] |
104787 | M | 215573![]() |
- | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.A:I.1(A.I.1)]; PMID:27418640 [P1(4)] | |
104791 | M | 215575![]() |
- | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.C:II.1(C.II.1)]; PMID:27418640 [P4(4)] | |
104838 | M | 215578![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.F:II.2(F.II.2)]; PMID:29729943 [Fam.F:F.II.1 (24)]; PMID:27418640 [P20(5)]; PMID:34619682 [P.56] |
104847 | M | 215581 | 0 | Egyptian | Abnormal lymphoproliferation | Omenn syndrome 2 | PMID:30307608 [2] |
104850 | M | 215584 | 0 | Egyptian | Abnormal lymphoproliferation | Omenn syndrome 2 | PMID:30307608 [5] |
104851 | M | 215585 | 0 | Egyptian | Abnormal lymphoproliferation | Omenn syndrome 3 | PMID:30307608 [6] |
104858 | M | 215592 | 1 | Egyptian | Abnormal lymphoproliferation | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [11] |
104879 | F | 215606 | 0 | Egyptian | Abnormal lymphoproliferation | Severe combined immunodeficiency 9A, T-B- | PMID:30307608 [25] |
104886 | F | 215613![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.G:III.1(G.III.1 (26))]; PMID:25367873 [Fam.1:III.6(III.6)] |
104916 | M | 215613![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [G.III.2]; PMID:29729943 [Fam.G:III.2(G.III.2 (27))]; PMID:25367873 [Fam.1:III.5(III.5)] |
105043 | F | 215630![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P9(II.1)]; PMID:29729943 [Fam.BBB:II.1(BBB.II.1 (131))] |
105046 | M | 215632![]() |
6 | Abnormal lymphoproliferation | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28253502 [Fam.1:II.1(Patient 1)] | |
105057 | F | 215635![]() |
26 | German | Abnormal lymphoproliferation | 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)] |
105172 | M | 215659 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.T:II.1(T.II.1 (48))]; PMID:27102614 [Fam.A:II.1(1)] |
105175 | M | 215660 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Q:II.1(Q.II.1 (44))]; PMID:27102614 [Fam.B:I.1(2)] |
105176 | F | 215661 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:II.1(L.II.1 (35))]; PMID:27102614 [Fam.C:II.1(3)] |
105177 | M | 215661 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [L.II.2]; PMID:29729943 [Fam.L:II.2(L.II.2 (36))]; PMID:27102614 [Fam.C:II.2(4)] |
105179 | F | 215661 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:I.2(L.I.2 (34))]; PMID:27102614 [Fam.C:I.2(mother)] |
105180 | M | 215662 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.S:II.1(S.II.1 (47))]; PMID:27102614 [Fam.D:II.1(5)] |
105249 | M | 215676 | 3 | Turkish | Abnormal lymphoproliferation | Immunodeficiency, common variable, 8 | PMID:28956255 [Fam.P2:II.2] |
105313 | M | 215688![]() |
7 | European | Abnormal lymphoproliferation | 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)] |
105336 | M | 215698 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.AAA:II.1(AAA.II.1 (130))]; PMID:27908448 [Patient(I.1)] |
105363 | F | 215722 | - | Afro-American | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.X:II.1(X.II.1 (59))]; PMID:28366794 [Fam.A:II.1(P1)] |
105370 | F | 215725 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Z:III.1(Z.III.1 (67))]; PMID:27577878 [Fam.B:II.1(15.1)] |
105388 | M | 215739 | - | Abnormal lymphoproliferation | Immunodeficiency, common variable, 8 | PMID:31238161 [Fam.F1:P1] | |
105424 | M | 215766![]() |
- | Admixed | Abnormal lymphoproliferation | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.F:II.1(P8)]; PMID:25457153 [Fam.1:II.2(P1)]; PMID:25075846 [Fam.1:II.2(older-sib)] |
105428 | M | 215766![]() |
- | Admixed | Abnormal lymphoproliferation | 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)] |
105533 | M | 215791 | - | Portuguese | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29225858 [Patient(I.1)] |
105546 | M | 215800![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29867916 [N211(II.1)]; PMID:29729943 [Fam.O:II.1(O.II.1 (42))] |
105564 | M | 215807![]() |
3 | Spanish | Abnormal lymphoproliferation | 4q24 deletion syndrome | PMID:29867916 [N227(II.1)]; PMID:150198 [Fam.BK:I.2(291)]; PMID:35784294 [case(II.1)] |
105635 | F | 215829 | 9 | Caucasian | Abnormal lymphoproliferation | Activated p110-delta syndrome 1 | PMID:26371693 [1] |
105750 | M | 215853 | 16 | North American | Abnormal lymphoproliferation | NFKB1 insufficiency | PMID:32278790 [AP.I.1]; PMID:150198 [Fam.CQ:436] |
105773 | M | 215866 | 63 | German | Abnormal lymphoproliferation | NFKB1 insufficiency | PMID:32278790 [BU.I.1]; PMID:150198 [Fam.DF:463]; PMID:36105815 [A245V] |
105859 | F | 215894![]() |
46 | British | Abnormal lymphoproliferation | 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)] |
105899 | F | 215900![]() |
4 | North American | Abnormal lymphoproliferation | NFKB1 insufficiency | PMID:150198 [Fam.DW:II.1(538)]; PMID:34307247 [Fam.1:II.1(daughter1)]; PMID:28802957 [Fam.1:II.1(II.1)] |
105907 | M | 215904 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.J:II.1(J.II.1 (32))] |
105910 | F | 215905 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [K.II.1]; PMID:29729943 [Fam.K:II.1(K.II.1 (33))] |
105926 | M | 215909 | - | Japanese | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.N:III.2(N.III.2 (41))]; PMID:35087518 [Fam.12:III.2(12.4)] |
105957 | M | 215914 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.P:II.2(P.II.2 (43))] |
105973 | F | 215917 | - | Japanese | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.V:II.1(V.II.1 (53))]; PMID:35087518 [14.1] |
105974 | M | 215918 | - | Japanese | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:I.1(W.I.1 (54))]; PMID:30048690 [Fam.2:I.1(P2.1)]; PMID:35087518 [Fam.15:I.1(15.1)] |
105976 | M | 215918 | - | Japanese | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:II.1(W.II.1 (55))]; PMID:35087518 [Fam.15:II.1(15.2)] |
105977 | F | 215918 | - | Japanese | Abnormal lymphoproliferation | 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)] |
105978 | F | 215918 | - | Japanese | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:II.3(W.II.3 (57))]; PMID:30048690 [Fam.2:II.3(P2.3)]; PMID:35087518 [Fam.15:II.3(15.4)] |
105981 | M | 215919 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Y:II.1(Y.II.1 (61))] |
105985 | F | 215920 | - | Japanese | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.BB:II.2(BB.II.2 (72))]; PMID:30048690 [Fam.6:II.2(P6.2)]; PMID:35087518 [Fam.17:II.2(17.3)] |
105986 | F | 215921![]() |
47 | Abnormal lymphoproliferation | NFKB1 insufficiency | PMID:150198 [Fam.FG:II.2(630)]; PMID:36203612 [Fam.1:II.2(1.II.1)] | |
106000 | M | 215922![]() |
- | Abnormal lymphoproliferation | NFKB1 insufficiency | PMID:150198 [Fam.FH:III.2(641)]; PMID:36203612 [Fam.2:III.2(2.III.2)] | |
106023 | M | 215923 | - | Japanese | Abnormal lymphoproliferation | 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 | Abnormal lymphoproliferation | 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 | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.EE:II.1(EE.II.1 (76))] |
106042 | M | 215927 | - | North American | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [FF.II.1]; PMID:29729943 [Fam.FF:II.1(FF.II.1 (77))] |
106044 | F | 215929 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.KK:II.1(KK.II.1 (85))] |
106047 | F | 215930 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))] |
106057 | F | 210991 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.8(NN.II.6 (90))] |
106060 | F | 210991 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.10(NN.II.8 (91))] |
106068 | M | 215931 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.PP:II.1(PP.II.1 (96))] |
106069 | F | 215932 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.RR:II.1(RR.II.1 (98))] |
106070 | F | 215933 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.SS:II.1(SS.II.1 (99))] |
106094 | M | 215947 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.VV:II.1(VV.II.1 (124))] |
106097 | M | 215948 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.WW:II.1(WW.II.1 (125))] |
106099 | M | 210955 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.ZZ:II.1(ZZ.II.1 (129))] |
106105 | M | 215950 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.CCC:II.1(CCC.II.1 (132))] |
106109 | M | 215952![]() |
- | Iranian | Abnormal lymphoproliferation | NFKB1 insufficiency | PMID:150198 [Fam.EG:III.4(584)]; PMID:35392793 [Fam.1:III.4(III-1(index))] |
106246 | F | 215977 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.11(UU.III.7 (111))]; PMID:29305966 [Fam.IV.2:III.2(III.2)] |
106251 | M | 215977 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.13(UU.III.9 (112))]; PMID:29305966 [Fam.IV.2:III.7(III.3)] |
106259 | F | 215977 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.2(UU.III.2 (107))]; PMID:29305966 [Fam.IV.2:III.12(III.4)] |
106313 | F | 215982 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P1] |
106314 | M | 215983 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P2] |
106371 | M | 216004 | 22 | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29375547 [Fam.A:II.1(A.II.1)]; PMID:31396201 [P2(II.1)] | |
106555 | M | 216078![]() |
- | Caucasian | Abnormal lymphoproliferation | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.A:II.1(P1)]; PMID:25075845 [Fam.1:II.2(Young-bro)] |
106592 | M | 216085 | 16 | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34116213 [Fam.A:II.1(P1)] | |
106636 | F | 216095 | - | Iranian | Abnormal lymphoproliferation | Activated p110-d syndrome 2 | PMID:31117086 [P34] |
106697 | F | 216110 | - | Japanese | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30048690 [Fam.7:7.1]; PMID:35087518 [Fam.20:20.1] |
106760 | M | 216123![]() |
- | Israeli | Decreased lymphocyte proliferation in response to mitogen: anti-CD3 | X-linked severe combined immunodeficiency | PMID:32921793 [Fam.A:II.1(P1-A)] |
106761 | F | 216124![]() |
1 | Caucasian | Decreased lymphocyte proliferation in response to mitogen: PHA | T-negative/B-positive SCID type 1 | PMID:28916186 [P5]; PMID:31440277 [pt(II.1)] |
106812 | F | 216158 | 15 | Abnormal lymphoproliferation | Immunodeficiency, common variable, 14 | PMID:39059757 [P4] | |
106819 | M | 216163![]() |
- | Chinese (China) | Abnormal lymphoproliferation | Immunodeficiency, common variable, 1 | PMID:36571238 [Fam.2:II.2(II:2[P3])] |
106912 | F | 216186 | 49 | Abnormal lymphoproliferation | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] | |
106956 | M | 216197 | - | Abnormal lymphoproliferation | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P12] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).