Reduced number of B cells

Basic details

Preferred term: Reduced number of B cells
Alt. terms: B- | B lymphocytopenia | B cell lymphopenia | Low B cell count | low B cell numbers | reduced B cell count

HPO term: B lymphocytopenia
HPO code: HP:0010976

GenIA ID: 22
Last updated on: 2022-11-02 22:48:47

Cross ref. with other ontologies

NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -

Description

An abnormal decrease from the normal count of B cells.

Hierarchical classification

TERM

Reduced number of B cells

Reported patients added to GenIA DB

SubjectID Sex Fam.ID Age* Population MatchedTerm Diagnosis Reference & Pub.codes
101038 F 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]
101127 F 210318 42 German Reduced number of B cells PMID:34975878 [Fam.F077:P077]
101129 F 210906 34 German Lymphopenia PMID:34975878 [Fam.F078:P078]
101136 M 210356 51 Reduced number of B cells PMID:34975878 [Fam.F085:P085]
101138 F 211092 - Lymphopenia PMID:34975878 [Fam.F086:P086]
101167 M 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]
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)]
101503 M 210237 - Abnormal B cell count PMID:34975878 [Fam.F168:P168]
101511 M 212459 - British Reduced number of B cells Activated p110-delta syndrome 1 PMID:24136356 [Fam.A:III.3(P2)]
101512 M 212459 - British Reduced number of B cells Activated p110-delta syndrome 1 PMID:24136356 [Fam.A:III.4(P3)]
101524 F 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)]
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)]
101601 M 212619tree icon 14 Italian Lymphopenia ARPC1B deficiency PMID:30254128 [Fam.A:II.1(P1)]; PMID:30771411 [P2]; PMID:35967303 [Pt2]; PMID:35767111 [P2]
101624 M 210946 - Abnormal B cell count Agammaglobulinemia, X-linked 1 PMID:34975878 [Fam.F215:P215]
101635 F 211154 - German Lymphopenia Severe combined immunodeficiency due to adenosine deaminase deficiency PMID:34975878 [Fam.F221:P221]
101690 F 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)]
101813 F 211525 52 Abnormal B cell count PMID:34975878 [Fam.F273:P273]
101818 M 211539 - Reduced number of B cells Agammaglobulinemia, X-linked 1 PMID:34975878 [Fam.F281:P281]
101855 F 211657 - Reduced number of B cells PMID:34975878 [Fam.F317:P317]
101924 M 210094 - German Lymphopenia Immunodeficiency 31C PMID:34390440 [CMC05]
102133 M 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]
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 Moroccan Lymphopenia Otofaciocervical syndrome 2 PMID:28657137 [V:1(V.1)]; PMID:32111619 [Fam.B:V.4(P2)]
102294 F 214934tree icon 0 Moroccan Lymphopenia Otofaciocervical syndrome 2 PMID:28657137 [Fam.V:1:V.18(V:18)]; PMID:32111619 [Fam.B:V.2(P3)]
102397 F 214944tree icon 0 Saudi Lymphopenia Otofaciocervical syndrome 2 PMID:32111619 [Fam.C:IV.5(P6)]
102398 F 214944tree icon 0 Saudi Lymphopenia 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)]
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)]
102897 M 215007tree icon 0 Turkish Lymphopenia T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:30903456 [P1(II.1)]; PMID:33464451 [P12(II.1)]; PMID:37419334 [P12(27)]
102900 F 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 T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P2(II.1)]; PMID:37419334 [P2(22)]
102915 F 215016 - Lymphopenia T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P4]; PMID:37419334 [P4(22)]
102916 F 215017 -,- Lymphopenia,Reduced number of B cells T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P5]; PMID:37419334 [P5(22)]
102917 M 215018 - Lymphopenia T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P6]; PMID:37419334 [P6(22)]
102918 F 215019 -,- Lymphopenia,Reduced number of B cells T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P7]; PMID:37419334 [P7(22)]
102920 F 215021 - Lymphopenia T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P9]; PMID:37419334 [P9(22)]
102921 M 215022 - Lymphopenia T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P10]
102922 F 215023 - Lymphopenia T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P11]
102923 F 215024 - Lymphopenia T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P12]
102926 M 215027 - Lymphopenia T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P15(II.1)]; PMID:37419334 [P15(22)]
102927 M 215028 - Lymphopenia T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P16]; PMID:37419334 [P16(22)]
102928 M 215029 - Lymphopenia T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P17]
102929 F 215030 - Lymphopenia T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P18]; PMID:37419334 [P18(22)]
102930 F 215031 - Lymphopenia T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P19]; PMID:37419334 [P19(22)]
102931 F 215032 - Lymphopenia T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P20]; PMID:37419334 [P20(22)]
102932 M 215033 -,- Lymphopenia,Reduced number of B cells T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P21]; PMID:37419334 [P21(22)]
102962 F 215058tree icon 0 North American Lymphopenia T-cell immunodeficiency with thymic aplasia PMID:31566583 [P1(II.1)]; PMID:37419334 [P1]
102965 F 215059tree icon 0 North American Lymphopenia T-cell immunodeficiency with thymic aplasia PMID:31566583 [P2(II.1)]; PMID:37419334 [P2]
102969 U 215061 0 North American Lymphopenia T-cell lymphopenia with or without nail dystrophy, AD PMID:31566583 [P4]; PMID:37419334 [P4]
102972 U 215064 1 North American Lymphopenia T-cell lymphopenia with or without nail dystrophy, AD PMID:31566583 [P7]; PMID:37419334 [P7]
102973 U 215065 0 North American Lymphopenia T-cell lymphopenia with or without nail dystrophy, AD PMID:31566583 [P8]; PMID:37419334 [P8]
102974 U 215066 0 North American Lymphopenia T-cell lymphopenia with or without nail dystrophy, AD PMID:31566583 [P9]; PMID:37419334 [P9]
102975 U 215067 0 North American Lymphopenia T-cell lymphopenia with or without nail dystrophy, AD PMID:31566583 [P10]; PMID:37419334 [P10]
102976 U 215068 0 North American Lymphopenia T-cell lymphopenia with or without nail dystrophy, AD PMID:31566583 [P11]; PMID:37419334 [P11]
102977 U 215069 0 North American Lymphopenia T-cell lymphopenia with or without nail dystrophy, AD PMID:31566583 [P12]; PMID:37419334 [P12]
102984 F 215074tree icon 9 European/American Lymphopenia Immunodeficiency 97 PMID:31554793 [A.1(II.1)]
102987 F 215075tree icon 14,15 Austrian Lymphopenia,Reduced number of B cells Immunodeficiency 97 PMID:33054089 [Patient(II.1)]
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 Ashkenazi Jewish Lymphopenia Immunodeficiency 82 with systemic inflammation PMID:33782605 [Fam.2:I.1(P3)]
103292 F 215114 50,52 German Lymphopenia,Reduced number of B cells Immunodeficiency 82 with systemic inflammation PMID:33782605 [P5]
103293 M 215115 44 Reduced number of B cells Immunodeficiency 82 with systemic inflammation PMID:33782605 [P6]
103462 F 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)]
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 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)]
104000 M 215321 - Reduced number of B cells Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P4]
104226 F 215419tree icon - Spanish Lymphopenia 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)]
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)]
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 - Lymphopenia 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]
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]
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)]
105190 F 215664 28 Caucasian Reduced number of B cells CTLA4 haploinsufficiency with autoimmune infiltration PMID:27102614 [Fam.F:II.1(7)]
105191 F 215664 26 Caucasian Reduced number of B cells CTLA4 haploinsufficiency with autoimmune infiltration PMID:27102614 [Fam.F:II.2(8)]
105225 F 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)]
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]
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)]
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 Caucasian Lymphopenia 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)]
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 Caucasian Lymphopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:29200144 [Fam.A:IV.1(P1)]
105568 M 215809 11 Reduced number of B cells Activated p110-delta syndrome 1 PMID:24698326 [Fam.A:II.1(P2)]
105569 F 215809 - Lymphopenia Activated p110-delta syndrome 1 PMID:24698326 [Fam.A:II.2(P7)]
105573 U 215812 17 Reduced number of B cells Activated p110-delta syndrome 1 PMID:24698326 [P4]
105574 U 215813 11 Reduced number of B cells Activated p110-delta syndrome 1 PMID:24698326 [P5]
105576 U 215815 - Reduced number of B cells Activated p110-delta syndrome 1 PMID:24698326 [P8]
105623 M 215822 13 Caucasian Reduced number of B cells Activated p110-delta syndrome 1 PMID:25352054 [Fam.1:II.6(P2)]
105635 F 215829 - Caucasian Reduced number of B cells Activated p110-delta syndrome 1 PMID:26371693 [1]
105641 F 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)]
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 Italian Lymphopenia T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:33464451 [P8]; PMID:37419334 [P8(27)]
106145 M 215954 9 Slovak Reduced number of B cells T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:33464451 [P9]; PMID:37419334 [P9(27)]
106223 M 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])]
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)]
106675 M 216105 - Egyptian Reduced number of B cells NFKB1 insufficiency PMID:150198 [Fam.EH:585]; PMID:35482138 [Fam.139:158]
106700 F 216113 30 Japanese Lymphopenia CTLA4 haploinsufficiency with autoimmune infiltration PMID:35087518 [Fam.22:22.1]; PMID:34707038 [Patient(II.1)]
106753 F 216122tree icon 1 Chinese (China) Lymphopenia T-negative/B-positive SCID type 1 PMID:31309596 [Pt(II.2)]
106760 M 216123tree icon 0 Israeli Lymphopenia 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)]
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 Turkish Lymphopenia 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).