Reduced number of B cells
Basic details
Preferred term: Reduced number of B cells
Alt. terms: B- | B lymphocytopenia | B cell lymphopenia | Low B cell count | low B cell numbers | reduced B cell count
HPO term: B lymphocytopenia
HPO code: HP:0010976
GenIA ID: 22
Last updated on: 2022-11-02 22:48:47
Cross ref. with other ontologies
NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -
Description
An abnormal decrease from the normal count of B cells.
Hierarchical classification
PARENT terms
TERM
Reduced number of B cells
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101038 | F | 210182![]() |
- | Caucasian | Reduced number of B cells | 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)] |
101039 | F | 210182![]() |
22 | Caucasian | Lymphopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:III.3(B.III.3)]; PMID:29729943 [Fam.B:III.4(B.III.3 (18))] |
101045 | M | 210205![]() |
19 | Caucasian | Lymphopenia | 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)] |
101049 | F | 210205![]() |
22 | Caucasian | Lymphopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:III.15(A.III.5)]; PMID:29729943 [Fam.A:III.15(A.III.5 (10))] |
101051 | F | 210205![]() |
26 | Caucasian | Lymphopenia | 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)] |
101068 | M | 210742 | 21 | Reduced number of B cells | PMID:34975878 [Fam.F037:P037] | ||
101077 | F | 210211 | 25 | German | Lymphopenia | PMID:34975878 [Fam.F043:P043] | |
101081 | F | 211315 | 46 | Reduced number of B cells | PMID:34975878 [Fam.F047:P047] | ||
101086 | M | 210934 | 40 | German | Reduced number of B cells | PMID:34975878 [Fam.F052:P052] | |
101093 | M | 211289 | - | German | Reduced number of B cells | Immunodeficiency, common variable, 8 | PMID:34975878 [Fam.F059:P059]; PMID:31857261 [Patient 4] |
101095 | M | 210286 | 0 | Reduced number of B cells | PMID:34975878 [Fam.F060:P060] | ||
101115 | F | 210778 | 33 | Caucasian | Reduced number of B cells | NFKB1 insufficiency | PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427] |
101120 | M | 210221 | 47 | German | Lymphopenia | PMID:34975878 [Fam.F071:P071] | |
101127 | F | 210318 | 42 | German | Reduced number of B cells | PMID:34975878 [Fam.F077:P077] | |
101129 | F | 210906 | 34 | German | Lymphopenia | PMID:34975878 [Fam.F078:P078] | |
101136 | M | 210356 | 51 | Reduced number of B cells | PMID:34975878 [Fam.F085:P085] | ||
101138 | F | 211092 | - | Lymphopenia | PMID:34975878 [Fam.F086:P086] | ||
101167 | M | 211470![]() |
- | Lymphopenia | NFKB1 insufficiency | PMID:34975878 [Fam.F108:P108]; PMID:33486103 [Fam.1:II.1(patient)]; PMID:150198 [Fam.DT:II.1(510)] | |
101171 | M | 210012![]() |
7 | Dutch | Reduced number of B cells | Immunodeficiency, common variable, 20 | PMID:25926555 [Patient(II.1)] |
101181 | F | 211169 | - | Lymphopenia | PMID:34975878 [Fam.F115:P115] | ||
101203 | M | 211488 | - | Lymphopenia | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F125:P125] | |
101207 | F | 211502 | - | Lymphopenia | PMID:34975878 [Fam.F130:P130] | ||
101286 | F | 212146 | - | Saudi | Reduced number of B cells | 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 | Reduced number of B cells | Immunodeficiency, common variable, 8 | PMID:22721650 [Fam.VI:5:V.4]; PMID:25468195 [Fam.C:II.4(P5)]; PMID:26707784 [P9] |
101364 | F | 212159 | - | North American | Reduced number of B cells | Immunodeficiency, common variable, 8 | PMID:27379089 [P13] |
101365 | M | 212160 | - | North American | Reduced number of B cells | Immunodeficiency, common variable, 8 | PMID:27379089 [P14] |
101391 | F | 211018 | 20 | Reduced number of B cells | PMID:34975878 [Fam.F137:P137] | ||
101399 | F | 210189![]() |
16 | German | Lymphopenia | Adenosine deaminase 2 deficiency | PMID:28493328 [P6]; PMID:26922074 [Fam.Index:II.1(sister1)] |
101401 | F | 210205![]() |
-,- | Caucasian | Lymphopenia,Reduced number of B cells | 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![]() |
47 | Caucasian | Reduced number of B cells | 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![]() |
15,- | Georgian | Lymphopenia,Reduced number of B cells | 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)] |
101473 | F | 212398 | 4 | Spanish | Reduced number of B cells | Immunodeficiency, common variable, 8 | PMID:30386343 [Patient(II.1)] |
101481 | U | 212455 | - | Italian | Reduced number of B cells | Severe combined immunodeficiency 9A, T-B- | PMID:20547828 [OS6] |
101495 | M | 212458 | 1 | Taiwanese | Reduced number of B cells | Activated p110-delta syndrome 1 | PMID:16984281 [P3(II.1)] |
101501 | F | 212459 | - | British | Reduced number of B cells | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:II.2(P4)] |
101503 | M | 210237 | - | Abnormal B cell count | PMID:34975878 [Fam.F168:P168] | ||
101511 | M | 212459 | - | British | Reduced number of B cells | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.3(P2)] |
101512 | M | 212459 | - | British | Reduced number of B cells | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.4(P3)] |
101524 | F | 210020![]() |
- | German | Reduced number of B cells | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.105:II.1(P1)]; PMID:34975878 [Fam.F173:P173] |
101530 | M | 212460 | - | British | Reduced number of B cells | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:III.3(P5)] |
101532 | F | 212460 | - | British | Reduced number of B cells | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:III.5(P6)] |
101538 | F | 212460 | - | British | Reduced number of B cells | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:IV.3(P7)] |
101541 | M | 212461 | - | Slovenian | Reduced number of B cells | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.C:II.1(P8)] |
101548 | M | 212462 | - | Irish | Reduced number of B cells | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.D:III.1(P9)] |
101549 | F | 212463 | - | British | Reduced number of B cells | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.E:I.1(P13)] |
101552 | M | 212464 | - | French | Reduced number of B cells | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.F:II.1(P14)] |
101560 | M | 212465 | - | French | Reduced number of B cells | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.G:II.2(P15)] |
101561 | F | 212465 | - | French | Reduced number of B cells | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.G:II.3(P16)] |
101575 | M | 210900 | -,- | German | Lymphopenia,Reduced number of B cells | Adenosine deaminase 2 deficiency | PMID:34975878 [Fam.F198:P198]; PMID:28493328 [P2] |
101578 | M | 210205![]() |
30,- | German | Lymphopenia,Reduced number of B cells | 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)] |
101601 | M | 212619![]() |
14 | Italian | Lymphopenia | ARPC1B deficiency | PMID:30254128 [Fam.A:II.1(P1)]; PMID:30771411 [P2]; PMID:35967303 [Pt2]; PMID:35767111 [P2] |
101624 | M | 210946 | - | Abnormal B cell count | Agammaglobulinemia, X-linked 1 | PMID:34975878 [Fam.F215:P215] | |
101635 | F | 211154 | - | German | Lymphopenia | Severe combined immunodeficiency due to adenosine deaminase deficiency | PMID:34975878 [Fam.F221:P221] |
101690 | F | 212636![]() |
4 | Jordanian | Reduced number of B cells | ARPC1B deficiency | PMID:30771411 [P13(IV.5)] |
101713 | F | 212643 | - | Jordanian | Reduced number of B cells | Agammaglobulinemia 4 | PMID:25893637 [Fam.P1:II.5(P2)] |
101722 | F | 210261![]() |
- | Asian | Lymphopenia | 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)] |
101774 | M | 210908![]() |
- | Argentinian | Lymphopenia | Adenosine deaminase 2 deficiency | PMID:28493328 [P9(II.1)] |
101794 | F | 211030 | - | Italian | Lymphopenia | Adenosine deaminase 2 deficiency | PMID:28493328 [P5] |
101800 | M | 215769![]() |
- | Caucasian | Reduced number of B cells | 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)] |
101813 | F | 211525 | 52 | Abnormal B cell count | PMID:34975878 [Fam.F273:P273] | ||
101818 | M | 211539 | - | Reduced number of B cells | Agammaglobulinemia, X-linked 1 | PMID:34975878 [Fam.F281:P281] | |
101855 | F | 211657 | - | Reduced number of B cells | PMID:34975878 [Fam.F317:P317] | ||
101924 | M | 210094 | - | German | Lymphopenia | Immunodeficiency 31C | PMID:34390440 [CMC05] |
102133 | M | 214352![]() |
- | Sudanese | Lymphopenia | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.C:II.1(C.II.1)] |
102171 | F | 214852![]() |
0 | Japanese | Reduced number of B cells | OAS1 immunodeficiency | PMID:29455859 [Fam.B:II.1]; PMID:29185156 [P1] |
102260 | F | 214926![]() |
- | Mexican | Lymphopenia | ARPC1B deficiency | PMID:32683750 [Fam.case:II.2(sister)]; PMID:36708766 [Fam.A:II.2(P1)] |
102262 | F | 214927![]() |
0 | Japanese | Reduced number of B cells | OAS1 immunodeficiency | PMID:29455859 [Fam.C:II.1]; PMID:34145065 [P5(II.1)]; PMID:29185156 [P2] |
102274 | F | 214929![]() |
0 | German | Reduced number of B cells | OAS1 immunodeficiency | PMID:34145065 [P1(II.2)] |
102277 | M | 214930![]() |
- | North American | Reduced number of B cells | OAS1 immunodeficiency | PMID:34145065 [P2(II.1)] |
102285 | F | 214932![]() |
0 | North American | Reduced number of B cells | OAS1 immunodeficiency | PMID:34145065 [P4(II.2)] |
102289 | M | 214934![]() |
0 | Moroccan | Lymphopenia | Otofaciocervical syndrome 2 | PMID:28657137 [V:1(V.1)]; PMID:32111619 [Fam.B:V.4(P2)] |
102294 | F | 214934![]() |
0 | Moroccan | Lymphopenia | Otofaciocervical syndrome 2 | PMID:28657137 [Fam.V:1:V.18(V:18)]; PMID:32111619 [Fam.B:V.2(P3)] |
102397 | F | 214944![]() |
0 | Saudi | Lymphopenia | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:IV.5(P6)] |
102398 | F | 214944![]() |
0 | Saudi | Lymphopenia | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:V.2(P4)] |
102425 | M | 214949![]() |
47 | French | Lymphopenia | Hyper-IgE recurrent infection syndrome 4A | PMID:32207811 [Fam.A:II.2(P2)] |
102477 | M | 214964![]() |
10 | Turkish | Reduced number of B cells | Hyper-IgE recurrent infection syndrome 4B | PMID:30309848 [Patient(III.5)] |
102626 | M | 214969![]() |
- | Filipino | Reduced number of B cells | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.1:II.1(P1)] |
102637 | M | 214972![]() |
24 | Reduced number of B cells | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.4:II.2(P4)] | |
102661 | F | 214979![]() |
1 | Moroccan | Lymphopenia | Immunodeficiency 8 | PMID:23522482 [Fam.P3:V.2(P2)] |
102731 | F | 214982![]() |
8,8 | Colombian | Lymphopenia,Reduced number of B cells | Immunodeficiency 99 | PMID:32484799 [Patient(II.2)] |
102735 | F | 214983![]() |
18 | North American | Reduced number of B cells | Autoinflammation, immune dysregulation, and eosinophilia | PMID:32750333 [Patient(II.2)] |
102786 | F | 214988![]() |
23 | Turkish | Lymphopenia | Hyper-IgE recurrent infection syndrome 3 | PMID:29907691 [Fam.D:II.1(P6)] |
102814 | U | 214993![]() |
1,1 | Caucasian | Lymphopenia,Reduced number of B cells | SCID with microcephaly, growth retardation, and sensitivity to ionizing radiation | PMID:16439205 [Patient]; PMID:12604777 [2BN(II.1)] |
102815 | M | 214994 | 4 | Lymphopenia | Immunodeficiency 8 | PMID:34913575 [Patient] | |
102818 | M | 214993![]() |
4,4 | Caucasian | Lymphopenia,Reduced number of B cells | SCID with microcephaly, growth retardation, and sensitivity to ionizing radiation | PMID:12604777 [Fam.2BN:II.2(3BN)] |
102865 | F | 214996![]() |
7 | Italian | Lymphopenia | ARPC1B deficiency | Hartnup disease | PMID:35967303 [PtII-1(II.1)]; PMID:35967303 [PtII-1(II.1)] |
102897 | M | 215007![]() |
0 | Turkish | Lymphopenia | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:30903456 [P1(II.1)]; PMID:33464451 [P12(II.1)]; PMID:37419334 [P12(27)] |
102900 | F | 215007![]() |
1,1 | Turkish | Lymphopenia,Reduced number of B cells | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:30903456 [Fam.P1:II.2(P2)]; PMID:33464451 [Fam.P12:II.2(P13)]; PMID:37419334 [P13(27)] |
102901 | F | 215008![]() |
0 | Brasilian | Reduced number of B cells | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:35064468 [patient(II.2)] |
102911 | M | 215012 | -,- | Lymphopenia,Reduced number of B cells | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P1]; PMID:37419334 [P1(22)] | |
102912 | M | 215013 | 0 | Lymphopenia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P2(II.1)]; PMID:37419334 [P2(22)] | |
102915 | F | 215016 | - | Lymphopenia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P4]; PMID:37419334 [P4(22)] | |
102916 | F | 215017 | -,- | Lymphopenia,Reduced number of B cells | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P5]; PMID:37419334 [P5(22)] | |
102917 | M | 215018 | - | Lymphopenia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P6]; PMID:37419334 [P6(22)] | |
102918 | F | 215019 | -,- | Lymphopenia,Reduced number of B cells | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P7]; PMID:37419334 [P7(22)] | |
102920 | F | 215021 | - | Lymphopenia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P9]; PMID:37419334 [P9(22)] | |
102921 | M | 215022 | - | Lymphopenia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P10] | |
102922 | F | 215023 | - | Lymphopenia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P11] | |
102923 | F | 215024 | - | Lymphopenia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P12] | |
102926 | M | 215027 | - | Lymphopenia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P15(II.1)]; PMID:37419334 [P15(22)] | |
102927 | M | 215028 | - | Lymphopenia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P16]; PMID:37419334 [P16(22)] | |
102928 | M | 215029 | - | Lymphopenia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P17] | |
102929 | F | 215030 | - | Lymphopenia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P18]; PMID:37419334 [P18(22)] | |
102930 | F | 215031 | - | Lymphopenia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P19]; PMID:37419334 [P19(22)] | |
102931 | F | 215032 | - | Lymphopenia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P20]; PMID:37419334 [P20(22)] | |
102932 | M | 215033 | -,- | Lymphopenia,Reduced number of B cells | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P21]; PMID:37419334 [P21(22)] | |
102962 | F | 215058![]() |
0 | North American | Lymphopenia | T-cell immunodeficiency with thymic aplasia | PMID:31566583 [P1(II.1)]; PMID:37419334 [P1] |
102965 | F | 215059![]() |
0 | North American | Lymphopenia | T-cell immunodeficiency with thymic aplasia | PMID:31566583 [P2(II.1)]; PMID:37419334 [P2] |
102969 | U | 215061 | 0 | North American | Lymphopenia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P4]; PMID:37419334 [P4] |
102972 | U | 215064 | 1 | North American | Lymphopenia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P7]; PMID:37419334 [P7] |
102973 | U | 215065 | 0 | North American | Lymphopenia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P8]; PMID:37419334 [P8] |
102974 | U | 215066 | 0 | North American | Lymphopenia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P9]; PMID:37419334 [P9] |
102975 | U | 215067 | 0 | North American | Lymphopenia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P10]; PMID:37419334 [P10] |
102976 | U | 215068 | 0 | North American | Lymphopenia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P11]; PMID:37419334 [P11] |
102977 | U | 215069 | 0 | North American | Lymphopenia | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P12]; PMID:37419334 [P12] |
102984 | F | 215074![]() |
9 | European/American | Lymphopenia | Immunodeficiency 97 | PMID:31554793 [A.1(II.1)] |
102987 | F | 215075![]() |
14,15 | Austrian | Lymphopenia,Reduced number of B cells | Immunodeficiency 97 | PMID:33054089 [Patient(II.1)] |
103072 | F | 215098![]() |
13 | Finnish | Lymphopenia | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F4:II.1(P5)] |
103076 | F | 215099![]() |
2,2 | Omani | Lymphopenia,Reduced number of B cells | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.5(P6)] |
103110 | M | 215099![]() |
3 | Omani | Lymphopenia | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.2(P7)] |
103281 | F | 215111![]() |
0 | Chinese (China) | Lymphopenia | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.1:II.2(P1)] |
103285 | F | 215112![]() |
0,1 | Ashkenazi Jewish | Lymphopenia,Reduced number of B cells | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.2:II.1(P2)] |
103286 | M | 215112![]() |
33 | Ashkenazi Jewish | Lymphopenia | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.2:I.1(P3)] |
103292 | F | 215114 | 50,52 | German | Lymphopenia,Reduced number of B cells | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [P5] |
103293 | M | 215115 | 44 | Reduced number of B cells | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [P6] | |
103462 | F | 215132![]() |
0 | Moroccan | Reduced number of B cells | ARPC1B deficiency | PMID:35767111 [P4(II.2)] |
103478 | M | 215135![]() |
- | French | Lymphopenia | Immunodeficiency 55 | PMID:28414293 [Fam.B:II.1(P3)] |
103485 | F | 215137![]() |
7 | French | Lymphopenia | Immunodeficiency 55 | PMID:28414293 [Fam.D:II.1(P5)] |
103542 | M | 215156![]() |
- | Mexican | Reduced number of B cells | ARPC1B deficiency | PMID:36708766 [Fam.C:II.3(P5)] |
103547 | M | 215157![]() |
- | Mexican | Lymphopenia | ARPC1B deficiency | PMID:36708766 [Fam.D:II.4(P6)] |
103834 | F | 215257![]() |
-,- | European | Lymphopenia,Reduced number of B cells | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.2:II.3(P2)] |
104000 | M | 215321 | - | Reduced number of B cells | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P4] | |
104226 | F | 215419![]() |
- | Spanish | Lymphopenia | Tubulointerstitial kidney disease type 5 | PMID:33185949 [case(II.1)] |
104414 | M | 215526![]() |
9 | Turkish | Reduced number of B cells | Early-onset atopic inflammation | PMID:36758835 [Patient(V.3)] |
104453 | F | 215530![]() |
- | European | Reduced number of B cells | Early-onset atopic inflammation | PMID:36884218 [Fam.D:II.1(P5)] |
104481 | M | 215536![]() |
10 | Caucasian | Reduced number of B cells | Early-onset atopic inflammation | PMID:36884218 [Fam.J:IV.2(P14)] |
104491 | M | 215536![]() |
8 | Caucasian | Reduced number of B cells | Early-onset atopic inflammation | PMID:36884218 [Fam.J:IV.3(P15)] |
104534 | M | 215546![]() |
- | Caucasian | Reduced number of B cells | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.C:II.1(Patient C)] |
104540 | M | 215549![]() |
-,- | North African | Lymphopenia,Reduced number of B cells | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.F:II.1(Patient F)] |
104771 | M | 215572![]() |
- | French | Reduced number of B cells | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:IV.5] |
104786 | F | 215573![]() |
13,13 | Lymphopenia,Reduced number of B cells | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.A:II.1(A.II.1)]; PMID:27418640 [P2(4)] | |
104791 | M | 215575![]() |
- | Lymphopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.C:II.1(C.II.1)]; PMID:27418640 [P4(4)] | |
104797 | M | 215577![]() |
6,6 | Lymphopenia,Reduced number of B cells | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)] | |
104845 | F | 215579![]() |
48 | European | Reduced number of B cells | 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)] |
104846 | F | 215580 | 0,0 | Egyptian | Lymphopenia,Reduced number of B cells | Omenn syndrome 2 | PMID:30307608 [1] |
105025 | F | 215626![]() |
- | French | Reduced number of B cells | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:32392079 [P1]; PMID:29590538 [Patient]; PMID:35677041 [Pt8] |
105045 | M | 215631![]() |
24 | Caucasian | Reduced number of B cells | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P10] |
105075 | M | 215636 | - | Spanish | Reduced number of B cells | Combined immunodeficiency 36 | PMID:35464398 [P5(II.1)] |
105088 | M | 215638 | 23,35 | Japanese | Lymphopenia,Reduced number of B cells | 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] |
105102 | M | 215640![]() |
- | European | Reduced number of B cells | NFKB1 insufficiency | PMID:32278790 [Fam.A:III.3(III.3)]; PMID:29477724 [Fam.A:III.3(III:3)]; PMID:150198 [Fam.AU:III.3(236)]; PMID:32918165 [Fam.A:III.3(Index)] |
105110 | M | 215644 | - | Reduced number of B cells | NFKB1 insufficiency | PMID:27379089 [P3]; PMID:32278790 [U.I.3]; PMID:29403474 [Patient 3 (10)]; PMID:150198 [Fam.AH:145] | |
105111 | F | 215645 | - | Reduced number of B cells | NFKB1 insufficiency | PMID:27379089 [P4]; PMID:32278790 [AR.I.4]; PMID:29403474 [Patient 4 (10)]; PMID:150198 [Fam.AI:146] | |
105112 | F | 215646 | - | Reduced number of B cells | NFKB1 insufficiency | PMID:27379089 [P5]; PMID:32278790 [BM.I.5]; PMID:29403474 [Patient 5 (10)]; PMID:150198 [Fam.AJ:147] | |
105129 | M | 215647![]() |
- | Reduced number of B cells | 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![]() |
- | Reduced number of B cells | 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 | Reduced number of B cells | 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] |
105152 | F | 215655![]() |
- | Spanish | Reduced number of B cells | 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] |
105176 | F | 215661 | 7 | Caucasian | Reduced number of B cells | 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 | 16 | Caucasian | Reduced number of B cells | 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)] |
105180 | M | 215662 | 18 | Caucasian | Reduced number of B cells | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.S:II.1(S.II.1 (47))]; PMID:27102614 [Fam.D:II.1(5)] |
105190 | F | 215664 | 28 | Caucasian | Reduced number of B cells | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27102614 [Fam.F:II.1(7)] |
105191 | F | 215664 | 26 | Caucasian | Reduced number of B cells | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27102614 [Fam.F:II.2(8)] |
105225 | F | 215671![]() |
- | Finnish | Lymphopenia | NFKB1 insufficiency | PMID:32278790 [Fam.F2:II.2(II.2)]; PMID:29403474 [Fam.2 (9):II.3(F2.II-3)]; PMID:28115215 [Fam.2:II.3(F2.II-3)]; PMID:150198 [Fam.AR:II.3(191)]; PMID:36356849 [Fam.5:II.2(F5:II:2)] |
105248 | F | 215676 | 12 | Turkish | Lymphopenia | Immunodeficiency, common variable, 8 | PMID:28956255 [P2(II.1)] |
105296 | F | 215686![]() |
- | European | Reduced number of B cells | 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![]() |
- | European | Reduced number of B cells | 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![]() |
- | European | Reduced number of B cells | 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![]() |
- | European | Reduced number of B cells | 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 | Reduced number of B cells | 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 | - | European | Reduced number of B cells | 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 | - | European | Reduced number of B cells | NFKB1 insufficiency | PMID:32278790 [G.II.1]; PMID:29477724 [Fam.G:II.1(II:1)]; PMID:150198 [Fam.BA:266]; PMID:36105815 [I87S] |
105332 | U | 215694 | - | European | Reduced number of B cells | NFKB1 insufficiency | PMID:32278790 [M.II.1]; PMID:29477724 [Fam.M:II.1(II:1)]; PMID:150198 [Fam.BG:285] |
105333 | F | 215695 | - | European | Reduced number of B cells | NFKB1 insufficiency | PMID:32278790 [N.II.1]; PMID:29477724 [Fam.N:II.1(II:1)]; PMID:150198 [Fam.BH:286] |
105336 | M | 215698 | 46 | Caucasian | Reduced number of B cells | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.AAA:II.1(AAA.II.1 (130))]; PMID:27908448 [Patient(I.1)] |
105338 | U | 215700 | - | European | Reduced number of B cells | NFKB1 insufficiency | PMID:32278790 [K.II.1]; PMID:29477724 [Fam.K:II.1(II:1)]; PMID:150198 [Fam.BE:280] |
105378 | F | 215729 | - | Reduced number of B cells | Immunodeficiency 84 | PMID:34155405 [Fam.1:II.3(p1)] | |
105379 | M | 215730 | - | Reduced number of B cells | Immunodeficiency 84 | PMID:34155405 [Fam.2:III.2(p2)] | |
105380 | F | 215731 | - | Reduced number of B cells | Immunodeficiency 84 | PMID:34155405 [Fam.2:III.1(p3)] | |
105400 | M | 215751 | - | Turkish | Reduced number of B cells | Immunodeficiency, common variable, 8 | PMID:32219082 [Patient 1] |
105403 | M | 215754 | 10 | Lymphopenia | Immunodeficiency, common variable, 8 | PMID:32915433 [Patient 1] | |
105412 | F | 215762![]() |
27,27 | Caucasian | Lymphopenia,Reduced number of B cells | 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)] |
105423 | M | 215765![]() |
3,3 | Caucasian | Lymphopenia,Reduced number of B cells | NFKB1 insufficiency | PMID:150198 [Fam.BO:II.2(308)]; PMID:30761159 [Fam.1:II.2(patient)] |
105428 | M | 215766![]() |
2 | Admixed | Lymphopenia | 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)] |
105432 | M | 215767![]() |
33 | Caucasian | Lymphopenia | NFKB1 insufficiency | PMID:150198 [Fam.BR:II.1(316)]; PMID:31803180 [Fam.A:II.1(S1)]; PMID:34619682 [P.200] |
105463 | M | 215772![]() |
- | Russian | Reduced number of B cells | 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] |
105465 | M | 215772![]() |
32 | Russian | Reduced number of B cells | NFKB1 insufficiency | PMID:150198 [Fam.BS:II.1(319)]; PMID:31803180 [Fam.B:II.1(S3)] |
105475 | F | 215776![]() |
- | European | Reduced number of B cells | Ezrin immunodeficiency | PMID:37301410 [P1(II.4)] |
105533 | M | 215791 | 44,44 | Portuguese | Lymphopenia,Reduced number of B cells | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29225858 [Patient(I.1)] |
105537 | M | 215793 | 18,- | Lymphopenia,Reduced number of B cells | Activated p110-delta syndrome 1 | PMID:24698326 [P1] | |
105542 | M | 215796 | 49 | Reduced number of B cells | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:28983403 [P6] | |
105543 | M | 215797 | 40,40 | Lymphopenia,Reduced number of B cells | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:28983403 [P7] | |
105546 | M | 215800![]() |
- | Caucasian | Lymphopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29867916 [N211(II.1)]; PMID:29729943 [Fam.O:II.1(O.II.1 (42))] |
105549 | F | 215801 | 12 | Caucasian | Lymphopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29200144 [Fam.A:IV.1(P1)] |
105568 | M | 215809 | 11 | Reduced number of B cells | Activated p110-delta syndrome 1 | PMID:24698326 [Fam.A:II.1(P2)] | |
105569 | F | 215809 | - | Lymphopenia | Activated p110-delta syndrome 1 | PMID:24698326 [Fam.A:II.2(P7)] | |
105573 | U | 215812 | 17 | Reduced number of B cells | Activated p110-delta syndrome 1 | PMID:24698326 [P4] | |
105574 | U | 215813 | 11 | Reduced number of B cells | Activated p110-delta syndrome 1 | PMID:24698326 [P5] | |
105576 | U | 215815 | - | Reduced number of B cells | Activated p110-delta syndrome 1 | PMID:24698326 [P8] | |
105623 | M | 215822 | 13 | Caucasian | Reduced number of B cells | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:II.6(P2)] |
105635 | F | 215829 | - | Caucasian | Reduced number of B cells | Activated p110-delta syndrome 1 | PMID:26371693 [1] |
105641 | F | 215831![]() |
- | Chinese (China) | Reduced number of B cells | Immunodeficiency, common variable, 8 | PMID:30363934 [case 1(I.2)] |
105746 | M | 215851![]() |
57 | Finnish | Lymphopenia | Immunodeficiency, common variable, 14 | PMID:34451894 [Patient(II.2)]; PMID:37876937 [Fam.C:II.2(C.1)] |
105761 | F | 215851![]() |
71 | Finnish | Lymphopenia | Immunodeficiency, common variable, 14 | PMID:34451894 [Fam.Patient:II.1(sister)]; PMID:37876937 [Fam.C:II.1(C.2)] |
105926 | M | 215909 | - | Japanese | Lymphopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.N:III.2(N.III.2 (41))]; PMID:35087518 [Fam.12:III.2(12.4)] |
106042 | M | 215927 | 22 | North American | Lymphopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [FF.II.1]; PMID:29729943 [Fam.FF:II.1(FF.II.1 (77))] |
106047 | F | 215930 | - | Caucasian | Reduced number of B cells | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))] |
106090 | M | 215946![]() |
0 | Saudi | Reduced number of B cells | T-cell immunodeficiency with thymic aplasia | PMID:33464451 [P11]; PMID:37419334 [P11(27)]; PMID:31151968 [Fam.1:II.2(Patient)] |
106094 | M | 215947 | 14 | Caucasian | Lymphopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.VV:II.1(VV.II.1 (124))] |
106144 | F | 215953 | 0 | Italian | Lymphopenia | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:33464451 [P8]; PMID:37419334 [P8(27)] |
106145 | M | 215954 | 9 | Slovak | Reduced number of B cells | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:33464451 [P9]; PMID:37419334 [P9(27)] |
106223 | M | 215976![]() |
- | Finnish | Lymphopenia | 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)] |
106304 | M | 215981![]() |
54 | Chinese (China) | Reduced number of B cells | NFKB1 insufficiency | PMID:150198 [Fam.FO:II.5(717)]; PMID:36571238 [Fam.1:II.5(II:5[P1])] |
106390 | M | 216005 | - | Reduced number of B cells | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:32996901 [Patient(II.1)] | |
106393 | F | 216006![]() |
20 | German | Lymphopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [III.3(III.3)] |
106402 | F | 216006![]() |
22,22 | German | Lymphopenia,Reduced number of B cells | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [Fam.III.3:III.2] |
106409 | M | 216010![]() |
42 | Chinese (China) | Reduced number of B cells | NFKB1 insufficiency | PMID:150198 [Fam.FT:II.2(741)]; PMID:37775675 [Fam.1:II.2(patient)] |
106419 | F | 216013![]() |
1 | Lymphopenia | T-negative/B-positive SCID type 1 | PMID:7481768 [AP(II.1)] | |
106422 | F | 216014 | - | Lymphopenia | NFKB1 insufficiency | PMID:150198 [Fam.DX:541]; PMID:34447408 [1(I.1)] | |
106445 | M | 216015![]() |
- | Lymphopenia | NFKB1 insufficiency | PMID:150198 [Fam.FU:III.2(763)]; PMID:38130541 [Fam.1:III.2(P2)] | |
106463 | F | 216023![]() |
- | Japanese | Reduced number of B cells | NFKB1 insufficiency | PMID:150198 [Fam.FX:II.3(779)]; PMID:38514645 [Fam.1:II.3(proband)] |
106555 | M | 216078![]() |
6 | Caucasian | Lymphopenia | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.A:II.1(P1)]; PMID:25075845 [Fam.1:II.2(Young-bro)] |
106577 | F | 216081![]() |
7 | Caucasian | Reduced number of B cells | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.D:II.2(P6)] |
106592 | M | 216085 | 16 | Lymphopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34116213 [Fam.A:II.1(P1)] | |
106637 | M | 216096![]() |
- | Danish | Reduced number of B cells | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:32047491 [P3(II.1)] |
106675 | M | 216105 | - | Egyptian | Reduced number of B cells | NFKB1 insufficiency | PMID:150198 [Fam.EH:585]; PMID:35482138 [Fam.139:158] |
106700 | F | 216113 | 30 | Japanese | Lymphopenia | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35087518 [Fam.22:22.1]; PMID:34707038 [Patient(II.1)] |
106753 | F | 216122![]() |
1 | Chinese (China) | Lymphopenia | T-negative/B-positive SCID type 1 | PMID:31309596 [Pt(II.2)] |
106760 | M | 216123![]() |
0 | Israeli | Lymphopenia | X-linked severe combined immunodeficiency | PMID:32921793 [Fam.A:II.1(P1-A)] |
106819 | M | 216163![]() |
54,54 | Chinese (China) | Lymphopenia,Reduced number of B cells | Immunodeficiency, common variable, 1 | PMID:36571238 [Fam.2:II.2(II:2[P3])] |
106840 | M | 216167 | - | SouthEast Asian | Reduced number of B cells | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35242131 [3] |
106847 | M | 216169![]() |
40,40 | Caucasian | Lymphopenia,Reduced number of B cells | Adenosine deaminase 2 deficiency | PMID:29963054 [P1(II.1)] |
106939 | M | 216189![]() |
- | Caucasian | Reduced number of B cells | NFKB1 insufficiency | PMID:150198 [Fam.FW:II.1(772)]; PMID:38423196 [Fam.1:II.1(P1)] |
107093 | M | 216330![]() |
- | Japanese | Lymphopenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [Fam.1:I.1(P1.1)] |
107097 | F | 216333![]() |
- | Japanese | Lymphopenia | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [Fam.4:P4.1] |
107151 | M | 216364![]() |
6 | Turkish | Lymphopenia | Hyper-IgE recurrent infection syndrome 2 | PMID:39437980 [Fam.A:II.1(Patient 1)] |
107181 | M | 216372![]() |
- | Iraqi | Lymphopenia | Adenosine deaminase 2 deficiency | PMID:27059682 [Fam.A:V.3(A5)] |
107217 | M | 216376 | - | Caucasian | Lymphopenia | Adenosine deaminase 2 deficiency | PMID:27059682 [D] |
107218 | F | 216377 | - | Caucasian | Lymphopenia | Adenosine deaminase 2 deficiency | PMID:27059682 [E] |
107219 | F | 216378 | - | Caucasian | Lymphopenia | Adenosine deaminase 2 deficiency | PMID:27059682 [F] |
107220 | M | 216379![]() |
- | Swedish | Lymphopenia | Adenosine deaminase 2 deficiency | PMID:27059682 [Fam.G:II.1(G1)] |
107223 | M | 216379![]() |
- | Swedish | Lymphopenia | Adenosine deaminase 2 deficiency | PMID:27059682 [Fam.G:II.2(G2)] |
107225 | M | 216381![]() |
0 | Vietnamese | Lymphopenia | Hemophagocytic lymphohistiocytosis, familial 5 | PMID:36503158 [Patient(III.3)] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).