Lymphopenia
Basic details
Preferred term: Lymphopenia
Alt. terms: Lymphocytopenia | Decreased blood lymphocyte number | Low lymphocyte number
HPO term: Lymphopenia
HPO code: HP:0001888
GenIA ID: 171
Last updated on: 2024-04-25 14:48:58
Cross ref. with other ontologies
NCIT: C26823
MESH: D008231
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -
Description
A reduced number of lymphocytes in the blood. It is defined by less than 1500 lymphocytes/microliter of blood in adults and less than 3000 lymphocytes/microliter of blood in children. Some lymphopenias are due to genetic abnormalities, however, most lymphopenias are due to viral infection, chemotherapy, radiation, under nutrition, immunosuppressant drug reaction, and autoimmune diseases. (Joseph R. Biggs, Dong-Er Zhang, Mol Pathology, 2nd Edition, 2018)
Hierarchical classification
PARENT terms
TERM
Lymphopenia
CHILD terms
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101023 | M | 210731 | - | German | Reduced T cell count | PMID:34975878 [Fam.F008:P008] | |
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] | |
101121 | M | 210784 | - | German | Reduced T cell count | PMID:34975878 [Fam.F072:P072] | |
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] | |
101132 | M | 210304 | - | German | Reduced T cell count | PMID:34975878 [Fam.F081:P081] | |
101136 | M | 210356 | - | 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] | ||
101191 | M | 212375 | - | Egyptian | Reduced T cell count | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES14] |
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)] |
101509 | F | 212459 | - | British | Reduced T cell count | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.A:III.2(P1)] |
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)] |
101563 | M | 212465 | - | French | Reduced T cell count | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.G:II.4(P17)] |
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)] |
101596 | M | 212618![]() |
1 | Jewish | Reduced T cell count | ARPC1B deficiency | PMID:29127144 [P1(II.1)] |
101601 | M | 212619![]() |
-,14 | Italian | Lymphopenia,Reduced T cell count | ARPC1B deficiency | PMID:30254128 [Fam.A:II.1(P1)]; PMID:30771411 [P2]; PMID:35967303 [Pt2]; PMID:35767111 [P2] |
101604 | M | 212620![]() |
- | Italian | Reduced T cell count | ARPC1B deficiency | PMID:30254128 [Fam.B:II.1(P2)]; PMID:30771411 [P3]; PMID:35967303 [Pt1]; PMID:35767111 [P1] |
101608 | M | 212621![]() |
- | Canadian | Reduced T cell count | ARPC1B deficiency | PMID:30254128 [Fam.C:II.1(P3)]; PMID:16019263 [case]; PMID:35967303 [Pt3] |
101611 | M | 212622![]() |
- | Colombian | Reduced T cell count | ARPC1B deficiency | PMID:30254128 [Fam.D:II.4(P4)] |
101617 | M | 210994 | - | Reduced T cell count | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F212:P212] | |
101622 | F | 212623![]() |
- | Moroccan | Reduced T cell count | ARPC1B deficiency | PMID:30254128 [Fam.E:II.1(P5)] |
101635 | F | 211154 | - | German | Lymphopenia | Severe combined immunodeficiency due to adenosine deaminase deficiency | PMID:34975878 [Fam.F221:P221] |
101652 | M | 212629![]() |
3 | Nepalese | Reduced T cell count | ARPC1B deficiency | PMID:30771411 [P4(II.1)] |
101667 | M | 212631![]() |
6 | Moroccan | Reduced T cell count | ARPC1B deficiency | PMID:30771411 [P6(II.2)]; PMID:35767111 [P5] |
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)] |
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] |
102119 | M | 214343 | - | Egyptian | Reduced T cell count | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES15] |
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] |
102250 | M | 214924![]() |
1 | Afghanistani | Reduced T cell count | ARPC1B deficiency | PMID:33679784 [II-6(II.6)]; PMID:35767111 [P7] |
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![]() |
0,0 | Moroccan | Lymphopenia,Reduced T cell count | Otofaciocervical syndrome 2 | PMID:28657137 [V:1(V.1)]; PMID:32111619 [Fam.B:V.4(P2)] |
102294 | F | 214934![]() |
0,0 | Moroccan | Lymphopenia,Reduced T cell count | Otofaciocervical syndrome 2 | PMID:28657137 [Fam.V:1:V.18(V:18)]; PMID:32111619 [Fam.B:V.2(P3)] |
102357 | M | 214937![]() |
1 | German | Reduced T cell count | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.A:II.1(P1)] |
102397 | F | 214944![]() |
0,0 | Saudi | Lymphopenia,Reduced T cell count | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:IV.5(P6)] |
102398 | F | 214944![]() |
0,0 | Saudi | Lymphopenia,Reduced T cell count | 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)] |
102677 | M | 214980![]() |
19 | Pakistani | Reduced T cell count | JAK1 deficiency | PMID:28008925 [Patient(II.4)] |
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)] |
102871 | F | 215001![]() |
1 | Italian | Reduced T cell count | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:8911612 [A.D.]; PMID:10206641 [Patient(II.2)]; PMID:33464451 [P1(II.2)]; PMID:28077132 [Fam.1:II.2(P1)] |
102881 | F | 215003![]() |
1 | Portuguese | Reduced T cell count | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:20978268 [Fam.1:II.1(P1)]; PMID:33464451 [P3]; PMID:28077132 [P7]; PMID:22590644 [Patient(II.1)] |
102884 | M | 215004![]() |
0 | Admixed | Reduced T cell count | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:20978268 [Fam.2:II.1(P2)]; PMID:33464451 [P4]; PMID:22721479 [Patient]; PMID:28077132 [P8] |
102887 | F | 215005![]() |
0 | Lebanese | Reduced T cell count | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:25173801 [Patient(II.1)]; PMID:33464451 [P5]; PMID:28077132 [P9] |
102891 | F | 215006![]() |
0 | Indian | Reduced T cell count | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:28636882 [Patient(II.3)]; PMID:33464451 [P6] |
102897 | M | 215007![]() |
0,0 | Turkish | Lymphopenia,Reduced T cell count | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:30903456 [P1(II.1)]; PMID:33464451 [P12(II.1)]; PMID:37419334 [P12(27)] |
102898 | M | 215007![]() |
- | Turkish | Reduced T cell count | PMID:30903456 [Fam.P1:I.1(father)] | |
102899 | F | 215007![]() |
- | Turkish | Reduced T cell count | PMID:30903456 [Fam.P1:I.2(mother)] | |
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,Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P2(II.1)]; PMID:37419334 [P2(22)] | |
102913 | M | 215014 | - | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P3] | |
102915 | F | 215016 | -,- | Lymphopenia,Reduced T cell count | 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,Reduced T cell count | 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)] | |
102919 | F | 215020 | 0 | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P8(II.1)]; PMID:37419334 [P8(22)] | |
102920 | F | 215021 | 0,- | Lymphopenia,Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P9]; PMID:37419334 [P9(22)] | |
102921 | M | 215022 | 0,- | Lymphopenia,Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P10] | |
102922 | F | 215023 | 0,- | Lymphopenia,Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P11] | |
102923 | F | 215024 | -,0 | Lymphopenia,Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P12] | |
102924 | M | 215025 | 0 | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P13] | |
102925 | M | 215026 | 0 | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P14]; PMID:37419334 [P14(22)] | |
102926 | M | 215027 | 0,- | Lymphopenia,Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P15(II.1)]; PMID:37419334 [P15(22)] | |
102927 | M | 215028 | -,- | Lymphopenia,Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P16]; PMID:37419334 [P16(22)] | |
102928 | M | 215029 | -,0 | Lymphopenia,Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P17] | |
102929 | F | 215030 | -,0 | Lymphopenia,Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P18]; PMID:37419334 [P18(22)] | |
102930 | F | 215031 | -,0 | Lymphopenia,Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P19]; PMID:37419334 [P19(22)] | |
102931 | F | 215032 | 0,- | Lymphopenia,Reduced T cell count | 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)] | |
102933 | M | 215034 | 0 | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P22]; PMID:37419334 [P22(22)] | |
102934 | F | 215035![]() |
0 | Caucasian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P23]; PMID:33464451 [P14(III.1)]; PMID:37419334 [P23(22)] |
102935 | M | 215035![]() |
0 | Caucasian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P24]; PMID:33464451 [Fam.P14:III.2(P15)]; PMID:37419334 [P15(27)] |
102936 | M | 215037 | 0 | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P25]; PMID:37419334 [P25(22)] | |
102937 | F | 215038 | - | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P26] | |
102938 | F | 215013 | - | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [Fam.P2:I.1(P27)] | |
102939 | F | 215027 | - | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [Fam.P15:I.1(P28)] | |
102940 | M | 215039 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P31]; PMID:37419334 [P31(22)] |
102941 | F | 215040 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P32]; PMID:37419334 [P32(22)] |
102942 | F | 215041 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P33]; PMID:37419334 [P33(22)] |
102943 | F | 215042 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P34]; PMID:37419334 [P34(22)] |
102944 | F | 215043 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P35]; PMID:37419334 [P35(22)] |
102945 | F | 215044 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P36]; PMID:37419334 [P36(22)] |
102946 | F | 215045 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P37]; PMID:37419334 [P37(22)] |
102947 | F | 215046 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P38]; PMID:37419334 [P38(22)] |
102948 | F | 215047 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P39]; PMID:37419334 [P39(22)] |
102949 | M | 215048 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P40]; PMID:37419334 [P40(22)] |
102950 | M | 215049 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P41]; PMID:37419334 [P41(22)] |
102951 | M | 215050 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P42]; PMID:37419334 [P42(22)] |
102952 | F | 215051 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P43]; PMID:37419334 [P43(22)] |
102953 | F | 215052 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P44]; PMID:37419334 [P44(22)] |
102954 | M | 215053 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P45]; PMID:37419334 [P45(22)] |
102955 | M | 215054 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P46]; PMID:37419334 [P46(22)] |
102956 | F | 215055 | - | Italian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P47]; PMID:37419334 [P47(22)] |
102957 | F | 215056 | - | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P29] | |
102958 | F | 215020 | - | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [Fam.P8:I.1(P30)] | |
102962 | F | 215058![]() |
0,0 | North American | Lymphopenia,Reduced T cell count | T-cell immunodeficiency with thymic aplasia | PMID:31566583 [P1(II.1)]; PMID:37419334 [P1] |
102965 | F | 215059![]() |
0,0 | North American | Lymphopenia,Reduced T cell count | T-cell immunodeficiency with thymic aplasia | PMID:31566583 [P2(II.1)]; PMID:37419334 [P2] |
102968 | U | 215060 | - | North American | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P3]; PMID:37419334 [P3] |
102969 | U | 215061 | 0,0 | North American | Lymphopenia,Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P4]; PMID:37419334 [P4] |
102970 | U | 215062 | 0 | North American | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P5]; PMID:37419334 [P5] |
102971 | U | 215063 | 0 | North American | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P6]; PMID:37419334 [P6] |
102972 | U | 215064 | 1,0 | North American | Lymphopenia,Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P7]; PMID:37419334 [P7] |
102973 | U | 215065 | 0,0 | North American | Lymphopenia,Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P8]; PMID:37419334 [P8] |
102974 | U | 215066 | 0,0 | North American | Lymphopenia,Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P9]; PMID:37419334 [P9] |
102975 | U | 215067 | 0,0 | North American | Lymphopenia,Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P10]; PMID:37419334 [P10] |
102976 | U | 215068 | 0,0 | North American | Lymphopenia,Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P11]; PMID:37419334 [P11] |
102977 | U | 215069 | 0,0 | North American | Lymphopenia,Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P12]; PMID:37419334 [P12] |
102978 | U | 215070 | 0 | North American | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P13]; PMID:37419334 [P13] |
102979 | U | 215071 | 0 | North American | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P14]; PMID:37419334 [P14] |
102980 | U | 215072 | 0 | North American | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P15]; PMID:37419334 [P15] |
102981 | U | 215073 | 0 | North American | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31566583 [P16]; PMID:37419334 [P16] |
102984 | F | 215074![]() |
9 | European/American | Lymphopenia | Immunodeficiency 97 | PMID:31554793 [A.1(II.1)] |
102987 | F | 215075![]() |
14,14 | Austrian | Lymphopenia,Reduced number of B cells | Immunodeficiency 97 | PMID:33054089 [Patient(II.1)] |
103062 | M | 215096![]() |
7 | Finnish | Reduced T cell count | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F2:II.2(P3)] |
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![]() |
33,1 | Ashkenazi Jewish | Lymphopenia,Reduced T cell count | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.2:I.1(P3)] |
103292 | F | 215114 | 52,50 | 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)] |
103541 | M | 215155![]() |
2 | Mexican | Reduced T cell count | ARPC1B deficiency | PMID:36708766 [Fam.B:II.1(P4)] |
103542 | M | 215156![]() |
- | Mexican | Reduced number of B cells | ARPC1B deficiency | PMID:36708766 [Fam.C:II.3(P5)] |
103547 | M | 215157![]() |
-,- | Mexican | Lymphopenia,Reduced T cell count | 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)] |
103997 | M | 215318![]() |
- | Reduced T cell count | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P1]; PMID:30092289 [P16] | |
104000 | M | 215321 | - | Reduced number of B cells | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P4] | |
104003 | F | 215324 | - | Reduced T cell count | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P7] | |
104004 | F | 215325 | - | Reduced T cell count | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P8] | |
104226 | F | 215419![]() |
-,- | Spanish | Lymphopenia,Reduced T cell count | 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)] |
104519 | F | 215537 | - | Gypsy | Reduced T cell count | ARPC1B deficiency | PMID:31379835 [P1] |
104522 | F | 215539 | - | Gypsy | Reduced T cell count | ARPC1B deficiency | PMID:31379835 [P4] |
104533 | M | 215545![]() |
- | Caucasian | Reduced T cell count | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.B:II.1(Patient B)] |
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)] |
104685 | F | 215571![]() |
- | Iranian | Reduced T cell count | Severe early onset systemic inflammation and autoimmunity | PMID:37382373 [Fam.1:VI.6(VI.5)] |
104713 | M | 215571![]() |
- | Iranian | Reduced T cell count | Severe early onset systemic inflammation and autoimmunity | PMID:37382373 [Fam.1:VI.5(VI.4)] |
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![]() |
-,15 | Lymphopenia,Reduced T cell count | 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] |
105034 | F | 215628![]() |
- | Finnish | Reduced T cell count | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25349174 [Fam.3:II.1(Patient 3)] |
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] |
105149 | M | 215654![]() |
21 | Chinese (China) | Reduced T cell count | Immunodeficiency, common variable, 14 | PMID:37350971 [Patient(II.1)]; PMID:37876937 [Fam.E:II.1(E.1)] |
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)] |
105185 | M | 215663 | 13 | Reduced T cell count | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27102614 [Fam.E:III.1(6)]; PMID:30940614 [P7] | |
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)] |
105204 | M | 215670![]() |
- | Reduced T cell count | T-negative/B-positive SCID type 1 | PMID:7659163 [Fam.1:II.1(G.M.)] | |
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)] |
105276 | F | 215684![]() |
1 | Saudi | Reduced T cell count | Autoinflammation, panniculitis, and dermatosis syndrome 2 | PMID:38914362 [Fam.O:II.1(113)]; PMID:38630025 [Fam.2:II.1(Patient 2)] |
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] |
105335 | U | 215697 | - | European | Reduced T cell count | NFKB1 insufficiency | PMID:32278790 [P.II.1]; PMID:29477724 [Fam.P:II.1(II:1)]; PMID:150198 [Fam.BJ:288] |
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)] |
105421 | F | 215762![]() |
6 | Caucasian | Reduced T cell count | NFKB1 insufficiency | PMID:32278790 [Fam.BB:II.1(II.1)]; PMID:30063981 [Fam.1:III.1(III.1)]; PMID:150198 [Fam.BM:III.1(301)] |
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![]() |
33,33 | Caucasian | Lymphopenia,Reduced T cell count | 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)] |
105529 | M | 215789 | - | Reduced T cell count | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:27379089 [P7] | |
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 | 12,18 | Caucasian | Lymphopenia,Reduced T cell count | 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)] |
105934 | M | 215910![]() |
0 | Reduced T cell count | T-negative/B-positive SCID type 1 | PMID:7659163 [Fam.2:II.1(C.M.)]; PMID:8676091 [Fam.1:II.1(C.M.)] | |
105943 | M | 215912![]() |
- | Colombian/Swiss | Reduced T cell count | Hyper-IgE recurrent infection syndrome 4A | PMID:37273120 [Fam.C:II.1(P8)] |
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 | 0,0 | Italian | Lymphopenia,Reduced T cell count | 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)] |
106150 | F | 215955 | 1 | Turkish | Reduced T cell count | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:33464451 [P10] |
106156 | M | 215035![]() |
0 | Caucasian | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:33464451 [Fam.P14:III.3(P18)]; PMID:37419334 [P18(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])] |
106332 | F | 215988![]() |
- | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:37419334 [P1(43)(II.2)]; PMID:34860543 [Fam.1:II.2(P1)] | |
106334 | M | 215988![]() |
- | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:37419334 [P3(43)(I.2)]; PMID:34860543 [Fam.1:I.2] | |
106335 | F | 215988![]() |
- | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:37419334 [P2(43)(II.1)]; PMID:34860543 [Fam.1:II.1] | |
106338 | M | 215991![]() |
- | Reduced T cell count | T-cell lymphopenia with or without nail dystrophy, AD | PMID:34860543 [Fam.2:II.2(P2)] | |
106363 | F | 216001![]() |
3 | Argentinian | Reduced T cell count | Immunodeficiency 117 | PMID:36736301 [Fam.A:II.1(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)] |
106646 | M | 216099 | 22 | Reduced T cell count | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34628649 [Patient(III.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)] |
106750 | F | 216121![]() |
0 | Palestinian | Reduced T cell count | T-negative/B-positive SCID type 1 | PMID:32921793 [Fam.B:II.1(P1-B)] |
106753 | F | 216122![]() |
1,1 | Chinese (China) | Lymphopenia,Reduced T cell count | T-negative/B-positive SCID type 1 | PMID:31309596 [Pt(II.2)] |
106760 | M | 216123![]() |
0,0 | Israeli | Lymphopenia,Reduced T cell count | 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)] |
107043 | M | 216282 | - | Reduced T cell count | Activated p110-delta syndrome 1 | PMID:27444043 [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![]() |
6,6 | Turkish | Lymphopenia,Reduced T cell count | 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).