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

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 210182tree icon - 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 210182tree icon 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 210205tree icon 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 210205tree icon 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 210205tree icon 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 211470tree icon - Lymphopenia NFKB1 insufficiency PMID:34975878 [Fam.F108:P108]; PMID:33486103 [Fam.1:II.1(patient)]; PMID:150198 [Fam.DT:II.1(510)]
101171 M 210012tree icon 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 210189tree icon 16 German Lymphopenia Adenosine deaminase 2 deficiency PMID:28493328 [P6]; PMID:26922074 [Fam.Index:II.1(sister1)]
101401 F 210205tree icon -,- 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 210205tree icon 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 210656tree icon 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 210020tree icon - 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 210205tree icon 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 212618tree icon 1 Jewish Reduced T cell count ARPC1B deficiency PMID:29127144 [P1(II.1)]
101601 M 212619tree icon -,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 212620tree icon - 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 212621tree icon - Canadian Reduced T cell count ARPC1B deficiency PMID:30254128 [Fam.C:II.1(P3)]; PMID:16019263 [case]; PMID:35967303 [Pt3]
101611 M 212622tree icon - 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 212623tree icon - 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 212629tree icon 3 Nepalese Reduced T cell count ARPC1B deficiency PMID:30771411 [P4(II.1)]
101667 M 212631tree icon 6 Moroccan Reduced T cell count ARPC1B deficiency PMID:30771411 [P6(II.2)]; PMID:35767111 [P5]
101690 F 212636tree icon 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 210261tree icon - 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 210908tree icon - 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 215769tree icon - 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 214352tree icon - Sudanese Lymphopenia Hyper-IgE recurrent infection syndrome 3 PMID:29907690 [Fam.C:II.1(C.II.1)]
102171 F 214852tree icon 0 Japanese Reduced number of B cells OAS1 immunodeficiency PMID:29455859 [Fam.B:II.1]; PMID:29185156 [P1]
102250 M 214924tree icon 1 Afghanistani Reduced T cell count ARPC1B deficiency PMID:33679784 [II-6(II.6)]; PMID:35767111 [P7]
102260 F 214926tree icon - Mexican Lymphopenia ARPC1B deficiency PMID:32683750 [Fam.case:II.2(sister)]; PMID:36708766 [Fam.A:II.2(P1)]
102262 F 214927tree icon 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 214929tree icon 0 German Reduced number of B cells OAS1 immunodeficiency PMID:34145065 [P1(II.2)]
102277 M 214930tree icon - North American Reduced number of B cells OAS1 immunodeficiency PMID:34145065 [P2(II.1)]
102285 F 214932tree icon 0 North American Reduced number of B cells OAS1 immunodeficiency PMID:34145065 [P4(II.2)]
102289 M 214934tree icon 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 214934tree icon 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 214937tree icon 1 German Reduced T cell count Otofaciocervical syndrome 2 PMID:32111619 [Fam.A:II.1(P1)]
102397 F 214944tree icon 0,0 Saudi Lymphopenia,Reduced T cell count Otofaciocervical syndrome 2 PMID:32111619 [Fam.C:IV.5(P6)]
102398 F 214944tree icon 0,0 Saudi Lymphopenia,Reduced T cell count Otofaciocervical syndrome 2 PMID:32111619 [Fam.C:V.2(P4)]
102425 M 214949tree icon 47 French Lymphopenia Hyper-IgE recurrent infection syndrome 4A PMID:32207811 [Fam.A:II.2(P2)]
102477 M 214964tree icon 10 Turkish Reduced number of B cells Hyper-IgE recurrent infection syndrome 4B PMID:30309848 [Patient(III.5)]
102626 M 214969tree icon - Filipino Reduced number of B cells Immunodeficiency 98 with autoinflammation, somatic PMID:33512449 [Fam.1:II.1(P1)]
102637 M 214972tree icon 24 Reduced number of B cells Immunodeficiency 98 with autoinflammation, somatic PMID:33512449 [Fam.4:II.2(P4)]
102661 F 214979tree icon 1 Moroccan Lymphopenia Immunodeficiency 8 PMID:23522482 [Fam.P3:V.2(P2)]
102677 M 214980tree icon 19 Pakistani Reduced T cell count JAK1 deficiency PMID:28008925 [Patient(II.4)]
102731 F 214982tree icon 8,8 Colombian Lymphopenia,Reduced number of B cells Immunodeficiency 99 PMID:32484799 [Patient(II.2)]
102735 F 214983tree icon 18 North American Reduced number of B cells Autoinflammation, immune dysregulation, and eosinophilia PMID:32750333 [Patient(II.2)]
102786 F 214988tree icon 23 Turkish Lymphopenia Hyper-IgE recurrent infection syndrome 3 PMID:29907691 [Fam.D:II.1(P6)]
102814 U 214993tree icon 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 214993tree icon 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 214996tree icon 7 Italian Lymphopenia ARPC1B deficiency | Hartnup disease PMID:35967303 [PtII-1(II.1)]; PMID:35967303 [PtII-1(II.1)]
102871 F 215001tree icon 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 215003tree icon 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 215004tree icon 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 215005tree icon 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 215006tree icon 0 Indian Reduced T cell count T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:28636882 [Patient(II.3)]; PMID:33464451 [P6]
102897 M 215007tree icon 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 215007tree icon - Turkish Reduced T cell count PMID:30903456 [Fam.P1:I.1(father)]
102899 F 215007tree icon - Turkish Reduced T cell count PMID:30903456 [Fam.P1:I.2(mother)]
102900 F 215007tree icon 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 215008tree icon 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 215035tree icon 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 215035tree icon 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 215058tree icon 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 215059tree icon 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 215074tree icon 9 European/American Lymphopenia Immunodeficiency 97 PMID:31554793 [A.1(II.1)]
102987 F 215075tree icon 14,14 Austrian Lymphopenia,Reduced number of B cells Immunodeficiency 97 PMID:33054089 [Patient(II.1)]
103062 M 215096tree icon 7 Finnish Reduced T cell count Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F2:II.2(P3)]
103072 F 215098tree icon 13 Finnish Lymphopenia Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F4:II.1(P5)]
103076 F 215099tree icon 2,2 Omani Lymphopenia,Reduced number of B cells Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F5:V.5(P6)]
103110 M 215099tree icon 3 Omani Lymphopenia Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F5:V.2(P7)]
103281 F 215111tree icon 0 Chinese (China) Lymphopenia Immunodeficiency 82 with systemic inflammation PMID:33782605 [Fam.1:II.2(P1)]
103285 F 215112tree icon 0,1 Ashkenazi Jewish Lymphopenia,Reduced number of B cells Immunodeficiency 82 with systemic inflammation PMID:33782605 [Fam.2:II.1(P2)]
103286 M 215112tree icon 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 215132tree icon 0 Moroccan Reduced number of B cells ARPC1B deficiency PMID:35767111 [P4(II.2)]
103478 M 215135tree icon - French Lymphopenia Immunodeficiency 55 PMID:28414293 [Fam.B:II.1(P3)]
103485 F 215137tree icon 7 French Lymphopenia Immunodeficiency 55 PMID:28414293 [Fam.D:II.1(P5)]
103541 M 215155tree icon 2 Mexican Reduced T cell count ARPC1B deficiency PMID:36708766 [Fam.B:II.1(P4)]
103542 M 215156tree icon - Mexican Reduced number of B cells ARPC1B deficiency PMID:36708766 [Fam.C:II.3(P5)]
103547 M 215157tree icon -,- Mexican Lymphopenia,Reduced T cell count ARPC1B deficiency PMID:36708766 [Fam.D:II.4(P6)]
103834 F 215257tree icon -,- European Lymphopenia,Reduced number of B cells Adenosine deaminase 2 deficiency PMID:24552284 [Fam.2:II.3(P2)]
103997 M 215318tree icon - 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 215419tree icon -,- Spanish Lymphopenia,Reduced T cell count Tubulointerstitial kidney disease type 5 PMID:33185949 [case(II.1)]
104414 M 215526tree icon 9 Turkish Reduced number of B cells Early-onset atopic inflammation PMID:36758835 [Patient(V.3)]
104453 F 215530tree icon - European Reduced number of B cells Early-onset atopic inflammation PMID:36884218 [Fam.D:II.1(P5)]
104481 M 215536tree icon 10 Caucasian Reduced number of B cells Early-onset atopic inflammation PMID:36884218 [Fam.J:IV.2(P14)]
104491 M 215536tree icon 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 215545tree icon - Caucasian Reduced T cell count X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.B:II.1(Patient B)]
104534 M 215546tree icon - Caucasian Reduced number of B cells X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.C:II.1(Patient C)]
104540 M 215549tree icon -,- 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 215571tree icon - Iranian Reduced T cell count Severe early onset systemic inflammation and autoimmunity PMID:37382373 [Fam.1:VI.6(VI.5)]
104713 M 215571tree icon - Iranian Reduced T cell count Severe early onset systemic inflammation and autoimmunity PMID:37382373 [Fam.1:VI.5(VI.4)]
104771 M 215572tree icon - French Reduced number of B cells Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [Fam.V-1:IV.5]
104786 F 215573tree icon 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 215575tree icon -,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 215577tree icon 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 215579tree icon 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 215626tree icon - French Reduced number of B cells Infantile-Onset Multisystem Autoimmune Disease 1 PMID:32392079 [P1]; PMID:29590538 [Patient]; PMID:35677041 [Pt8]
105034 F 215628tree icon - Finnish Reduced T cell count Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25349174 [Fam.3:II.1(Patient 3)]
105045 M 215631tree icon 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 215640tree icon - 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 215647tree icon - 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 215647tree icon - 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 215654tree icon 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 215655tree icon - 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 215670tree icon - Reduced T cell count T-negative/B-positive SCID type 1 PMID:7659163 [Fam.1:II.1(G.M.)]
105225 F 215671tree icon - 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 215684tree icon 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 215686tree icon - 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 215686tree icon - 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 215686tree icon - 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 215687tree icon - 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 215688tree icon - 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 215762tree icon 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 215762tree icon 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 215765tree icon 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 215766tree icon 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 215767tree icon 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 215772tree icon - 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 215772tree icon 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 215776tree icon - 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 215800tree icon - 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 215831tree icon - Chinese (China) Reduced number of B cells Immunodeficiency, common variable, 8 PMID:30363934 [case 1(I.2)]
105746 M 215851tree icon 57 Finnish Lymphopenia Immunodeficiency, common variable, 14 PMID:34451894 [Patient(II.2)]; PMID:37876937 [Fam.C:II.2(C.1)]
105761 F 215851tree icon 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 215910tree icon 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 215912tree icon - 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 215946tree icon 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 215035tree icon 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 215976tree icon - 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 215981tree icon 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 215988tree icon - 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 215988tree icon - 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 215988tree icon - 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 215991tree icon - Reduced T cell count T-cell lymphopenia with or without nail dystrophy, AD PMID:34860543 [Fam.2:II.2(P2)]
106363 F 216001tree icon 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 216006tree icon 20 German Lymphopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:36273440 [III.3(III.3)]
106402 F 216006tree icon 22,22 German Lymphopenia,Reduced number of B cells CTLA4 haploinsufficiency with autoimmune infiltration PMID:36273440 [Fam.III.3:III.2]
106409 M 216010tree icon 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 216013tree icon 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 216015tree icon - Lymphopenia NFKB1 insufficiency PMID:150198 [Fam.FU:III.2(763)]; PMID:38130541 [Fam.1:III.2(P2)]
106463 F 216023tree icon - Japanese Reduced number of B cells NFKB1 insufficiency PMID:150198 [Fam.FX:II.3(779)]; PMID:38514645 [Fam.1:II.3(proband)]
106555 M 216078tree icon 6 Caucasian Lymphopenia Adenosine deaminase 2 deficiency PMID:26867732 [Fam.A:II.1(P1)]; PMID:25075845 [Fam.1:II.2(Young-bro)]
106577 F 216081tree icon 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 216096tree icon - 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 216121tree icon 0 Palestinian Reduced T cell count T-negative/B-positive SCID type 1 PMID:32921793 [Fam.B:II.1(P1-B)]
106753 F 216122tree icon 1,1 Chinese (China) Lymphopenia,Reduced T cell count T-negative/B-positive SCID type 1 PMID:31309596 [Pt(II.2)]
106760 M 216123tree icon 0,0 Israeli Lymphopenia,Reduced T cell count X-linked severe combined immunodeficiency PMID:32921793 [Fam.A:II.1(P1-A)]
106819 M 216163tree icon 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 216169tree icon 40,40 Caucasian Lymphopenia,Reduced number of B cells Adenosine deaminase 2 deficiency PMID:29963054 [P1(II.1)]
106939 M 216189tree icon - 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 216330tree icon - Japanese Lymphopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:33501615 [Fam.1:I.1(P1.1)]
107097 F 216333tree icon - Japanese Lymphopenia Infantile-Onset Multisystem Autoimmune Disease 1 PMID:33501615 [Fam.4:P4.1]
107151 M 216364tree icon 6,6 Turkish Lymphopenia,Reduced T cell count Hyper-IgE recurrent infection syndrome 2 PMID:39437980 [Fam.A:II.1(Patient 1)]
107181 M 216372tree icon - 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 216379tree icon - Swedish Lymphopenia Adenosine deaminase 2 deficiency PMID:27059682 [Fam.G:II.1(G1)]
107223 M 216379tree icon - Swedish Lymphopenia Adenosine deaminase 2 deficiency PMID:27059682 [Fam.G:II.2(G2)]
107225 M 216381tree icon 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).