Abnormal B cell count

Basic details

Preferred term: Abnormal B cell count
Alt. terms: Abnormality of B cell number | Abnormal number of B cells

HPO term: Abnormal B cell count
HPO code: HP:0010975

GenIA ID: 652
Last updated on: 2021-12-10 17:55:48

Cross ref. with other ontologies

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

Description

A deviation (above or below) from the normal count of B cells.

Hierarchical classification

Reported patients added to GenIA DB

SubjectID Sex Fam.ID Age* Population MatchedTerm Diagnosis Reference & Pub.codes
101020 F 210008tree icon - German Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:34975878 [Fam.F005:P005]; PMID:32278790 [Fam.AU:II.3(II.3)]; PMID:29403474 [Patient 28 (11)]; PMID:150198 [Fam.AM:II.4(157)]; PMID:27461466 [Fam.199_01:28]
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)]
101045 M 210205tree icon 23 Caucasian Decreased proportion of transitional B cells 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)]
101062 M 212603tree icon - South Asian Increased number of B cells ARPC1B deficiency PMID:28368018 [Fam.1:II.1(P1)]; PMID:30771411 [P9]; PMID:34673575 [Fam.1:II.1(P1)]
101068 M 210742 21 Reduced number of B cells PMID:34975878 [Fam.F037:P037]
101080 F 211150 - Increased proportion of transitional B cells PMID:34975878 [Fam.F046:P046]
101081 F 211315 46 Reduced number of B cells PMID:34975878 [Fam.F047:P047]
101083 M 210479 38 German Decreased proportion of switched memory B cells PMID:34975878 [Fam.F049:P049]
101086 M 210934 40 German Reduced number of B cells PMID:34975878 [Fam.F052:P052]
101090 M 211257 - Decreased proportion of switched memory B cells CTLA4 haploinsufficiency with autoimmune infiltration PMID:34975878 [Fam.F056:P056]; PMID:37740092 [P13]
101091 M 210911 22 Decreased proportion of switched memory B cells DiGeorge syndrome PMID:34975878 [Fam.F057:P057]; PMID:35486341 [P180]
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]
101127 F 210318 42 German Reduced number of B cells PMID:34975878 [Fam.F077:P077]
101136 M 210356 51 Reduced number of B cells PMID:34975878 [Fam.F085:P085]
101171 M 210012tree icon 7 Dutch Reduced number of B cells Immunodeficiency, common variable, 20 PMID:25926555 [Patient(II.1)]
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 - German Decreased proportion of switched memory B cells Adenosine deaminase 2 deficiency PMID:28493328 [P6]; PMID:26922074 [Fam.Index:II.1(sister1)]
101401 F 210205tree icon - Caucasian 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)]
101403 M 210189tree icon - German Decreased proportion of switched memory B cells Adenosine deaminase 2 deficiency PMID:28493328 [P3]; PMID:26922074 [Index(II.2)]
101410 F 210902 - German Decreased proportion of switched memory B cells Adenosine deaminase 2 deficiency PMID:34975878 [Fam.F141:P141]; PMID:28493328 [P4]
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)]
101426 M 212173 3 Iranian Increased proportion of transitional B cells Immunodeficiency, common variable, 8 PMID:29528757 [Case 2]; PMID:26707784 [Fam.E:IV.2(P28)]; PMID:26993986 [Fam.F17:II.1(1)]; PMID:28512785 [P7]
101458 F 210656tree icon 15 Georgian 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)]
101461 M 210929 - German Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:34975878 [Fam.F153:P153]; PMID:32278790 [Z.I.1]; PMID:29403474 [Patient 27 (11)]; PMID:27923702 [Patient 6]; PMID:150198 [Fam.AL:151]; PMID:27461466 [Fam.830_01:27]
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]
101509 F 212459 - British Increased proportion of transitional B cells 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)]
101534 M 212460 - British Increased proportion of transitional B cells Activated p110-delta syndrome 1 PMID:24136356 [Fam.B:IV.1(P11)]
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)]
101543 F 210011 23 Decreased proportion of switched memory B cells PMID:34975878 [Fam.F179:P179]
101546 F 212462 - Irish Increased proportion of transitional B cells Activated p110-delta syndrome 1 PMID:24136356 [Fam.D:II.1(P10)]
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)]
101551 M 212463 - British Increased proportion of transitional B cells Activated p110-delta syndrome 1 PMID:24136356 [Fam.E:II.1(P12)]
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 Increased proportion of transitional B cells Activated p110-delta syndrome 1 PMID:24136356 [Fam.G:II.4(P17)]
101575 M 210900 - German Reduced number of B cells Adenosine deaminase 2 deficiency PMID:34975878 [Fam.F198:P198]; PMID:28493328 [P2]
101578 M 210205tree icon 30 German 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)]
101579 F 210773 - Turkish Decreased proportion of switched memory B cells Adenosine deaminase 2 deficiency PMID:28493328 [P1]; PMID:31857261 [Patient 13]
101587 M 212604tree icon - Scottish Increased number of B cells ARPC1B deficiency PMID:28368018 [Fam.2:II.1(P2)]; PMID:30771411 [P10(II.1)]; PMID:34673575 [Fam.2:II.3(P2)]
101592 M 212605tree icon 8 Moroccan Increased number of B cells ARPC1B deficiency PMID:27965109 [P1(II.1)]; PMID:30771411 [P1]; PMID:31710310 [Patient]; PMID:32499645 [Case 1]; PMID:34135903 [Patient]
101596 M 212618tree icon 1 Jewish Increased number of B cells ARPC1B deficiency PMID:29127144 [P1(II.1)]
101597 M 212618tree icon 0 Jewish Increased number of B cells ARPC1B deficiency PMID:29127144 [Fam.P1:II.10(P2)]; PMID:30254128 [P7]; PMID:35767111 [P6]
101611 M 212622tree icon - Colombian Increased number of B cells ARPC1B deficiency PMID:30254128 [Fam.D:II.4(P4)]
101617 M 210994 - Increased proportion of transitional B cells Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F212:P212]
101622 F 212623tree icon - Moroccan Increased number of B cells ARPC1B deficiency PMID:30254128 [Fam.E:II.1(P5)]
101624 M 210946 - Abnormal B cell count Agammaglobulinemia, X-linked 1 PMID:34975878 [Fam.F215:P215]
101652 M 212629tree icon 3 Nepalese Increased number of B cells ARPC1B deficiency PMID:30771411 [P4(II.1)]
101667 M 212631tree icon 6 Moroccan Increased number of B cells ARPC1B deficiency PMID:30771411 [P6(II.2)]; PMID:35767111 [P5]
101671 F 212632tree icon 4 Iranian Increased number of B cells ARPC1B deficiency PMID:30771411 [P7(IV.8)]; PMID:31710310 [Patient 2]
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)]
101774 M 210908tree icon - Argentinian Decreased proportion of switched memory B cells Adenosine deaminase 2 deficiency PMID:28493328 [P9(II.1)]
101788 M 210950tree icon - Swiss Decreased proportion of switched memory B cells Adenosine deaminase 2 deficiency PMID:28493328 [P7(II.1)]
101789 M 210950tree icon - Swiss Decreased proportion of switched memory B cells Adenosine deaminase 2 deficiency PMID:28493328 [Fam.P7:II.2(P8)]
101794 F 211030 - Italian Decreased proportion of switched memory B cells Adenosine deaminase 2 deficiency PMID:28493328 [P5]
101798 M 211117 45 Decreased proportion of switched memory B cells Adenosine deaminase 2 deficiency PMID:28493328 [P11]
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)]
101802 F 211221tree icon 38 German Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:33995346 [Fam.A:III.2(Pat2)]; PMID:150198 [Fam.DV:III.2(528)]; PMID:36105815 [Fam.Y350C:III.2(Y350C/2)]
101803 F 211221tree icon - German Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:33995346 [Fam.A:II.2(Pat1)]; PMID:150198 [Fam.DV:II.2(521)]; PMID:36105815 [Fam.Y350C:II.2(Y350C/1)]
101813 F 211525 52,52 Abnormal B cell count,Decreased proportion of switched memory B cells PMID:34975878 [Fam.F273:P273]
101818 M 211539 - Reduced number of B cells Agammaglobulinemia, X-linked 1 PMID:34975878 [Fam.F281:P281]
101827 M 211564 28 Decreased proportion of switched memory B cells PMID:34975878 [Fam.F291:P291]
101855 F 211657 - Reduced number of B cells PMID:34975878 [Fam.F317:P317]
101946 F 211943 - Decreased proportion of transitional B cells Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F406:P406]
102138 M 214393tree icon 62 North American Decreased proportion of switched memory B cells Immunodeficiency, common variable, 14 PMID:27016798 [Fam.Patient:II.2(F)]; PMID:37876937 [Fam.A:II.1(A.3)]
102141 F 214393tree icon 18 North American Decreased proportion of switched memory B cells Immunodeficiency, common variable, 14 PMID:27016798 [Patient(III.1)]; PMID:37876937 [Fam.A:III.1(A.1)]
102142 M 214393tree icon 22 North American Decreased proportion of switched memory B cells Immunodeficiency, common variable, 14 PMID:27016798 [Fam.Patient:III.2(B)]; PMID:37876937 [Fam.A:III.2(A.2)]
102168 M 214767tree icon 3 Georgian Decreased proportion of switched memory B cells Agammaglobulinemia 14 PMID:33571536 [P-FR1(II.3)]
102171 F 214852tree icon 0 Japanese Reduced number of B cells OAS1 immunodeficiency PMID:29455859 [Fam.B:II.1]; PMID:29185156 [P1]
102226 F 214921 - Russian Increased proportion of transitional B cells Activated p110-d syndrome 2 PMID:35486341 [P094]
102258 M 214926tree icon 0 Mexican Increased number of B cells ARPC1B deficiency PMID:32683750 [case(II.3)]; PMID:36708766 [Fam.A:II.3(P2)]
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 - Moroccan Increased number of B cells Otofaciocervical syndrome 2 PMID:28657137 [V:1(V.1)]; PMID:32111619 [Fam.B:V.4(P2)]
102410 F 214947tree icon 5 South Asian Decreased proportion of switched memory B cells Hyper-IgE recurrent infection syndrome 4B PMID:28747427 [Fam.A:II.3(P1)]
102466 M 214962tree icon 5 Polish Decreased proportion of switched memory B cells Immunodeficiency 94 PMID:33517393 [Patient(III.7)]
102477 M 214964tree icon 10 Turkish Reduced number of B cells Hyper-IgE recurrent infection syndrome 4B PMID:30309848 [Patient(III.5)]
102530 M 214966tree icon 55 Japanese Increased proportion of marginal zone B cells APRIL deficiency PMID:32298700 [Patient(V.3)]
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)]
102731 F 214982tree icon 8 Colombian 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)]
102814 U 214993tree icon 1 Caucasian Reduced number of B cells SCID with microcephaly, growth retardation, and sensitivity to ionizing radiation PMID:16439205 [Patient]; PMID:12604777 [2BN(II.1)]
102818 M 214993tree icon 4 Caucasian 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 Decreased proportion of switched memory B cells ARPC1B deficiency | Hartnup disease PMID:35967303 [PtII-1(II.1)]; PMID:35967303 [PtII-1(II.1)]
102871 F 215001tree icon 1 Italian Increased number of B cells 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)]
102900 F 215007tree icon 1 Turkish 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 - Reduced number of B cells T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P1]; PMID:37419334 [P1(22)]
102916 F 215017 - Reduced number of B cells T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P5]; PMID:37419334 [P5(22)]
102918 F 215019 - Reduced number of B cells T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P7]; PMID:37419334 [P7(22)]
102932 M 215033 - Reduced number of B cells T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P21]; PMID:37419334 [P21(22)]
102987 F 215075tree icon 15 Austrian Reduced number of B cells Immunodeficiency 97 PMID:33054089 [Patient(II.1)]
103062 M 215096tree icon - Finnish Increased proportion of transitional B cells Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F2:II.2(P3)]
103067 F 215097tree icon 3 Finnish Increased proportion of transitional B cells Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F3:II.3(P4)]
103072 F 215098tree icon 25 Finnish Increased proportion of transitional B cells Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F4:II.1(P5)]
103076 F 215099tree icon 2 Omani Reduced number of B cells Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F5:V.5(P6)]
103110 M 215099tree icon 3 Omani Increased proportion of transitional B cells Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F5:V.2(P7)]
103285 F 215112tree icon 1 Ashkenazi Jewish Reduced number of B cells Immunodeficiency 82 with systemic inflammation PMID:33782605 [Fam.2:II.1(P2)]
103292 F 215114 50 German 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]
103454 M 215130tree icon 11 Saudi Increased number of B cells infantile-onset multisystem autoimmune disease-3 PMID:36006710 [Fam.2:II.2(P2)]
103459 M 215131tree icon 4 Omani Increased number of B cells infantile-onset multisystem autoimmune disease-3 PMID:36006710 [Fam.3:II.1(P3)]
103462 F 215132tree icon 0 Moroccan Reduced number of B cells ARPC1B deficiency PMID:35767111 [P4(II.2)]
103542 M 215156tree icon - Mexican Reduced number of B cells ARPC1B deficiency PMID:36708766 [Fam.C:II.3(P5)]
103547 M 215157tree icon - Mexican Increased number of B cells ARPC1B deficiency PMID:36708766 [Fam.D:II.4(P6)]
103830 F 215256tree icon - European Increased proportion of naive B cells Adenosine deaminase 2 deficiency PMID:24552284 [Fam.1:II.2(P1)]
103834 F 215257tree icon - European Reduced number of B cells Adenosine deaminase 2 deficiency PMID:24552284 [Fam.2:II.3(P2)]
103839 M 215258tree icon - European Increased proportion of naive B cells Adenosine deaminase 2 deficiency PMID:24552284 [Fam.3:II.3(P3)]
103848 M 215260tree icon - European Increased proportion of naive B cells Adenosine deaminase 2 deficiency PMID:24552284 [Fam.5:II.1(P5)]
104000 M 215321 - Reduced number of B cells Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P4]
104392 F 215520tree icon 2 French Increased number of B cells Systemic early-onset autoinflammation, vasculitis and hepatopathy PMID:36122175 [Patient]
104398 M 215522tree icon - Czech Increased number of B cells Systemic early-onset autoinflammation, vasculitis and hepatopathy PMID:36932076 [P3(II.1)]
104410 M 215525tree icon 1 Japanese Decreased proportion of transitional B cells Early-onset atopic inflammation PMID:36538978 [Patient(II.2)]
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 Increased number of B cells ARPC1B deficiency PMID:31379835 [P1]
104520 M 215537 - Gypsy Increased number of B cells ARPC1B deficiency PMID:31379835 [Fam.P1:II.2(P2)]
104521 F 215538 - Gypsy Increased number of B cells ARPC1B deficiency PMID:31379835 [P3]
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)]
104535 M 215547tree icon - Reunionese Increased proportion of transitional B cells X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.D:II.1(Patient D1)]
104538 M 215547tree icon - Reunionese Increased proportion of transitional B cells X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.D:II.2(Patient D2)]
104540 M 215549tree icon - North African Reduced number of B cells X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.F:II.1(Patient F)]
104541 M 215550tree icon - North African Increased proportion of transitional B cells X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.G:II.1(Patient G)]
104568 F 215551tree icon - Pakistani Increased number of B cells Autoinflammation, panniculitis, and dermatosis syndrome PMID:27523608 [Fam.1:IV.3(IV:3)]; PMID:32231246 [IV:3(IV.3)]; PMID:27559085 [Fam.1:IV.1(P4)]; PMID:38914362 [Fam.A:V.6(027)]
104607 M 215556tree icon - Decreased proportion of marginal zone B cells X-linked multisystem autoinflammatory disease with immune dysregulation PMID:37342957 [Fam.A:II.3(P1)]
104713 M 215571tree icon - Iranian Increased number of B cells Severe early onset systemic inflammation and autoimmunity PMID:37382373 [Fam.1:VI.5(VI.4)]
104741 M 215572tree icon - French Increased number of B cells Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [Fam.V-1:III.6]
104771 M 215572tree icon - French Reduced number of B cells Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [Fam.V-1:IV.5]
104773 F 215572tree icon - French Increased number of B cells Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [Fam.V-1:IV.7]
104782 M 215572tree icon 1 French Increased number of B cells Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [Fam.V-1:V.2]
104786 F 215573tree icon 13 Reduced number of B cells CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.A:II.1(A.II.1)]; PMID:27418640 [P2(4)]
104797 M 215577tree icon 6 Reduced number of B cells CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)]
104842 M 215579tree icon 50 European Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.NZ:II.1(II.1)]; PMID:26279205 [Fam.NZ:II.1(II1)]; PMID:29403474 [Fam.NZ (5):II.1(II1)]; PMID:29806948 [Fam.NZ:II.1(II.1)]; PMID:30323807 [Fam.2:II.1(II.1)]; PMID:150198 [Fam.AC:II.1(108)]
104844 F 215579tree icon 76 European Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.NZ:I.2(I.2)]; PMID:26279205 [Fam.NZ:I.2(I2)]; PMID:29403474 [Fam.NZ (5):I.2(I2)]; PMID:29806948 [Fam.NZ:I.2(I.2)]; PMID:30323807 [Fam.2:I.2(I.2)]; PMID:150198 [Fam.AC:I.2(107)]
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 Egyptian Reduced number of B cells Omenn syndrome 2 PMID:30307608 [1]
104875 M 215579tree icon 46 European Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.NZ:II.3(II.3)]; PMID:26279205 [Fam.NZ:II.3(II3)]; PMID:29806948 [Fam.NZ:II.3(II.3)]; PMID:30323807 [Fam.2:II.3(II.3)]; PMID:150198 [Fam.AC:II.3(110)]
104876 F 215579tree icon 15 European Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.NZ:III.1(III.1)]; PMID:26279205 [Fam.NZ:III.1(III1)]; PMID:29806948 [Fam.NZ:III.1(III.1)]; PMID:30323807 [Fam.2:III.1(III.1)]; PMID:150198 [Fam.AC:III.1(112)]
104923 M 215620tree icon - Decreased proportion of switched memory B cells Immunodeficiency, common variable, 14 PMID:36193988 [Patient(II.1)]; PMID:37876937 [Fam.D:II.1(D.1)]
104972 F 215622tree icon 55 Dutch Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.NA:III.14(III.14)]; PMID:26279205 [Fam.NL1:III.14(36)]; PMID:29403474 [Fam.NL1 (5):III.14(36)]; PMID:11583829 [Fam.1:III.14(III:14)]; PMID:16639407 [Fam.1:III.14(36)]; PMID:27923702 [Patient 4]; PMID:27555455 [Patient 2]; PMID:150198 [Fam.AA:III.14(040)]
105019 M 215624tree icon - French Increased proportion of naive B cells Hyper-IgE recurrent infection syndrome 1 PMID:31346092 [P1(III.4)]
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]
105065 M 215624tree icon - French Increased proportion of naive B cells Hyper-IgE recurrent infection syndrome 1 PMID:31346092 [Fam.P1:III.5(P7)]
105066 F 215624tree icon - French Increased proportion of naive B cells Hyper-IgE recurrent infection syndrome 1 PMID:31346092 [Fam.P1:III.6(P3)]
105075 M 215636 - Spanish Reduced number of B cells Combined immunodeficiency 36 PMID:35464398 [P5(II.1)]
105088 M 215638 35 Japanese 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) Increased number of B cells 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]
105175 M 215660 13 Caucasian Increased number of B cells CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.Q:II.1(Q.II.1 (44))]; PMID:27102614 [Fam.B:I.1(2)]
105176 F 215661 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)]
105197 M 215666tree icon 37 Finnish Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.F1:III.3(III.3)]; PMID:29403474 [Fam.1 (9):III.3(F1.III-3)]; PMID:28115215 [Fam.1:III.3(F1.III-3)]; PMID:150198 [Fam.AQ:III.3(177)]; PMID:36356849 [Fam.6:III.3(F6:III:3)]; PMID:36105815 [Fam.H67R:III.3(H67R/4)]
105204 M 215670tree icon 0 Increased number of B cells T-negative/B-positive SCID type 1 PMID:7659163 [Fam.1:II.1(G.M.)]
105212 F 215666tree icon 55 Finnish Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.F1:II.4(II.4)]; PMID:29403474 [Fam.1 (9):II.4(F1.II-4)]; PMID:28115215 [Fam.1:II.4(F1.II-4)]; PMID:150198 [Fam.AQ:II.4(174)]; PMID:36356849 [Fam.6:II.4(F6:II:4)]; PMID:36105815 [Fam.H67R:II.4(H67R/2)]
105214 F 215666tree icon 40 Finnish Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.F1:III.2(III.2)]; PMID:29403474 [Fam.1 (9):III.2(F1.III-2)]; PMID:28115215 [Fam.1:III.2(F1.III-2)]; PMID:150198 [Fam.AQ:III.2(176)]; PMID:36356849 [Fam.6:III.2(F6:III:2)]; PMID:36105815 [Fam.H67R:III.2(H67R/3)]
105221 M 215666tree icon 10 Finnish Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.F1:IV.2(IV.2)]; PMID:28115215 [Fam.1:IV.1(F1.IV-1)]; PMID:150198 [Fam.AQ:IV.1(183)]; PMID:36356849 [Fam.6:IV.1(F6:IV:1)]; PMID:36105815 [Fam.H67R:IV.1(H67R/8)]
105222 F 215666tree icon 7 Finnish Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.F1:IV.1(IV.1)]; PMID:29403474 [Fam.1 (9):IV.2(F1.IV-2)]; PMID:28115215 [Fam.1:IV.2(F1.IV-2)]; PMID:150198 [Fam.AQ:IV.2(184)]; PMID:36356849 [Fam.6:IV.2(F6:IV:2)]; PMID:36105815 [Fam.H67R:IV.2(H67R/9)]
105225 F 215671tree icon 61 Finnish Decreased proportion of switched memory B cells 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)]
105231 M 215671tree icon 32 Finnish Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.F2:III.2(III.2)]; PMID:29403474 [Fam.2 (9):III.2(F2.III-2)]; PMID:28115215 [Fam.2:III.2(F2.III-2)]; PMID:150198 [Fam.AR:III.2(193)]; PMID:36356849 [Fam.5:III.2(F5:III:2)]
105232 M 215672tree icon 62 Finnish Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.F3:II.1(II.1)]; PMID:29403474 [Fam.3 (9):II.1(F3.II-1)]; PMID:28115215 [Fam.3:II.1(F3.II-1)]; PMID:150198 [Fam.AS:II.1(196)]; PMID:36356849 [Fam.3:II.1(F3:II:1)]; PMID:36892687 [II:1(II.1)]; PMID:38593810 [Fam.1:II.1(F1.II-1)]
105238 M 215672tree icon 56 Finnish Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.F3:II.5(II.5)]; PMID:29403474 [Fam.3 (9):II.5(F3.II-5)]; PMID:28115215 [Fam.3:II.5(F3.II-5)]; PMID:150198 [Fam.AS:II.9(204)]; PMID:36356849 [Fam.3:II.9(F3:II:9)]; PMID:36892687 [II:5(II.5)]; PMID:38593810 [Fam.1:II.9(F1.II-5)]
105245 M 215674tree icon - Caucasian Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.AN:II.2(II.1)]; PMID:29403474 [Fam.(12):I.1(P9.1)]; PMID:28983403 [Fam.1:I.1(P9.1)]; PMID:150198 [Fam.AT:II.1(223)]
105246 M 215674tree icon - Caucasian Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.AN:III.2(III.1)]; PMID:29403474 [Fam.(12):II.1(P9.2)]; PMID:28983403 [Fam.1:II.1(P9.2)]; PMID:150198 [Fam.AT:III.2(226)]
105279 F 215685tree icon - European Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.B:II.1(II.1)]; PMID:29477724 [Fam.B:II.1(II:1)]; PMID:150198 [Fam.AV:II.1(244)]
105284 F 215640tree icon - European Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.A:II.1(II.1)]; PMID:29477724 [Fam.A:II.1(II:1)]; PMID:150198 [Fam.AU:II.2(230)]
105287 F 215640tree icon - European Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.A:II.4(II.4)]; PMID:29477724 [Fam.A:II.4(II:4)]; PMID:150198 [Fam.AU:II.5(233)]
105290 M 215640tree icon - European Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.A:III.2(III.2)]; PMID:29477724 [Fam.A:III.2(III:2)]; PMID:150198 [Fam.AU:III.2(235)]; PMID:32918165 [Fam.A:III.2(brother)]
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)]
105304 F 215686tree icon - European Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.C:III.1(III.1)]; PMID:29477724 [Fam.C:III.1(III:1)]; PMID:150198 [Fam.AW:III.1(253)]
105306 M 215686tree icon - European Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.C:III.3(III.3)]; PMID:29477724 [Fam.C:III.3(III:3)]; PMID:150198 [Fam.AW:III.3(255)]
105307 M 215686tree icon - European Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.C:III.4(III.4)]; PMID:29477724 [Fam.C:III.4(III:4)]; PMID:150198 [Fam.AW:III.4(256)]
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)]
105311 F 215687tree icon - European Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.D:I.2(I.2)]; PMID:29477724 [Fam.D:I.2(I:2)]; PMID:150198 [Fam.AX:I.2(258)]
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]
105317 M 215692tree icon - European Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [Fam.J:III.2(III.2)]; PMID:29477724 [Fam.J:III.2(III:2)]; PMID:150198 [Fam.BD:III.2(277)]
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)]
105337 U 215699 - European Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [I.II.1]; PMID:29477724 [Fam.I:II.1(I:II-1)]; PMID:150198 [Fam.BC:268]
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]
105363 F 215722 13 Afro-American Increased proportion of transitional B cells CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.X:II.1(X.II.1 (59))]; PMID:28366794 [Fam.A:II.1(P1)]
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]
105412 F 215762tree icon 27 Caucasian 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 Caucasian 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 3 Admixed Decreased proportion of transitional B cells 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 Decreased proportion of switched memory B cells 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)]
105466 M 215772tree icon 23 Russian Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:150198 [Fam.BS:II.2(320)]; PMID:31803180 [Fam.B:II.2(S4)]
105475 F 215776tree icon - European Reduced number of B cells Ezrin immunodeficiency PMID:37301410 [P1(II.4)]
105481 M 215777tree icon - Haitian/Hispanic Decreased proportion of switched memory B cells Activated p110-delta syndrome 1 PMID:24165795 [Fam.A:II.1(A.1)]
105484 F 215778tree icon - Caucasian Decreased proportion of switched memory B cells Activated p110-delta syndrome 1 PMID:24165795 [Fam.B:III.1(B.III.1)]
105487 F 215780tree icon - Afro-American Decreased proportion of switched memory B cells Activated p110-delta syndrome 1 PMID:24165795 [Fam.G:II.1(G.1)]
105504 F 215783tree icon - Asian Decreased proportion of switched memory B cells Activated p110-delta syndrome 1 PMID:24165795 [Fam.E:II.1(E.1)]
105509 M 215784tree icon - Caucasian Decreased proportion of switched memory B cells Activated p110-delta syndrome 1 PMID:24165795 [Fam.D:II.1(D.II.1)]
105513 F 215787tree icon - Caucasian Decreased proportion of switched memory B cells Activated p110-delta syndrome 1 PMID:24165795 [Fam.F:II.1(F.II.1)]
105533 M 215791 44 Portuguese Reduced number of B cells CTLA4 haploinsufficiency with autoimmune infiltration PMID:29225858 [Patient(I.1)]
105537 M 215793 18 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 Reduced number of B cells CTLA4 haploinsufficiency with autoimmune infiltration PMID:28983403 [P7]
105549 F 215801 12 Caucasian Increased number of B cells 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)]
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]
105575 U 215814 11 Decreased proportion of switched memory B cells Activated p110-delta syndrome 1 PMID:24698326 [P6]
105576 U 215815 - Reduced number of B cells Activated p110-delta syndrome 1 PMID:24698326 [P8]
105591 F 215821 - Caucasian Increased proportion of transitional B cells Activated p110-delta syndrome 1 PMID:24610295 [Fam.2:II.1(F2P2)]
105609 M 215821 - Caucasian Increased proportion of transitional B cells Activated p110-delta syndrome 1 PMID:24610295 [Fam.2:III.1(F2P3)]
105623 M 215822 13 Caucasian Reduced number of B cells Activated p110-delta syndrome 1 PMID:25352054 [Fam.1:II.6(P2)]
105626 M 215822 - Caucasian Decreased proportion of switched memory B cells Activated p110-delta syndrome 1 PMID:25352054 [Fam.1:III.1(P3)]
105627 F 215822 3 Caucasian Decreased proportion of switched memory B cells Activated p110-delta syndrome 1 PMID:25352054 [Fam.1:III.2(P4)]
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)]
105659 F 215836 - Increased proportion of transitional B cells Activated p110-delta syndrome 1 PMID:26437962 [Fam.A:II.2(Sibling 2)]
105660 F 215836 - Increased proportion of transitional B cells Activated p110-delta syndrome 1 PMID:26437962 [Fam.A:II.3(Sibling 3)]
105757 F 215860 - North American Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:32278790 [BJ.I.1]; PMID:150198 [Fam.CX:443]
105778 F 215871tree icon 8 Spanish Increased proportion of transitional B cells NFKB1 insufficiency PMID:32278790 [CB.I.1]; PMID:150198 [Fam.DM:II.1(472)]; PMID:36105815 [Fam.G386R:II.1(G386R/1)]
105791 F 215877tree icon - Spanish Decreased proportion of switched memory B cells Immunodeficiency, common variable, 14 PMID:37876937 [Fam.1:II.1(1.1)]
105793 M 215877tree icon - Spanish Decreased proportion of switched memory B cells Immunodeficiency, common variable, 14 PMID:37876937 [Fam.1:I.2(1.2)]
105839 M 215888tree icon - Romani Decreased proportion of switched memory B cells Immunodeficiency, common variable, 14 PMID:37876937 [Fam.3:II.1(3.1)]
105934 M 215910tree icon 0 Increased number of B cells T-negative/B-positive SCID type 1 PMID:7659163 [Fam.2:II.1(C.M.)]; PMID:8676091 [Fam.1:II.1(C.M.)]
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)]
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)]
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])]
106312 M 215981tree icon 29 Chinese (China) Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:150198 [Fam.FO:III.1(719)]; PMID:36571238 [Fam.1:III.1(III:1[P2])]
106367 F 216003tree icon 6 Turkish Increased proportion of transitional B cells Immunodeficiency 117 PMID:36736301 [Fam.B:II.1(P2)]
106390 M 216005 - Reduced number of B cells CTLA4 haploinsufficiency with autoimmune infiltration PMID:32996901 [Patient(II.1)]
106393 F 216006tree icon - German Decreased proportion of switched memory B cells CTLA4 haploinsufficiency with autoimmune infiltration PMID:36273440 [III.3(III.3)]
106402 F 216006tree icon 22 German 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)]
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)]
106470 F 216023tree icon 3 Japanese Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:150198 [Fam.FX:III.1(781)]; PMID:38514645 [Fam.1:III.1(III:1)]
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 Decreased proportion of switched memory B cells CTLA4 haploinsufficiency with autoimmune infiltration PMID:34116213 [Fam.A:II.1(P1)]
106610 F 216089tree icon - Australian Decreased proportion of switched memory B cells Agammaglobulinemia 8A | Immunodeficiency, common variable, 2 PMID:30323807 [Fam.1:II.2(II.2)]; PMID:30323807 [Fam.1:II.2(II.2)]; PMID:29114388 [Fam.A:II.2(II.2)]; PMID:29114388 [Fam.A:II.2(II.2)]
106615 M 216089tree icon - Australian Decreased proportion of switched memory B cells Immunodeficiency, common variable, 2 PMID:30323807 [Fam.1:II.4(II.4)]; PMID:29114388 [Fam.A:II.4(II.4)]
106616 M 216089tree icon - Australian Decreased proportion of switched memory B cells Agammaglobulinemia 8A PMID:30323807 [Fam.1:III.1(III.1)]; PMID:29114388 [Fam.A:III.1(III.1)]
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 Decreased proportion of switched memory B cells 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]
106753 F 216122tree icon 1 Chinese (China) Increased number of B cells T-negative/B-positive SCID type 1 PMID:31309596 [Pt(II.2)]
106794 F 216145tree icon 27 German Increased proportion of transitional B cells Immunodeficiency, common variable, 14 PMID:34619682 [P.263]; PMID:39059757 [Fam.1:II.2(P2)]
106807 F 216145tree icon 16 German Increased proportion of transitional B cells Immunodeficiency, common variable, 14 PMID:34619682 [P.159]; PMID:39059757 [Fam.1:II.1(P1)]
106811 M 216157 34 German Increased proportion of transitional B cells Immunodeficiency, common variable, 14 PMID:39059757 [P3]
106812 F 216158 31 Decreased proportion of switched memory B cells Immunodeficiency, common variable, 14 PMID:39059757 [P4]
106819 M 216163tree icon 54 Chinese (China) 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 Caucasian 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)]
106953 M 216195 - Decreased proportion of switched memory B cells NFKB1 insufficiency PMID:150198 [Fam.GA:793]; PMID:38901617 [Fam.1:I.1(P1)]
107156 F 216365tree icon 10 Turkish Decreased proportion of switched memory B cells Hyper-IgE recurrent infection syndrome 2 PMID:39437980 [Fam.B:II.2(Patient 2)]

*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).