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
PARENT terms
TERM
Abnormal B cell count
CHILD terms
- Reduced number of B cells
- Increased proportion of transitional B cells
- Decreased proportion of transitional B cells
- Decreased proportion of switched memory B cells
- Decreased proportion of immature B cells
- Increased proportion of switched memory B cells
- Increased proportion of marginal zone B cells
- Decreased proportion of marginal zone B cells
- Increased proportion of naive B cells
- Decreased proportion of naive B cells
- Increased number of B cells
- reduced IgM memory B cell count
- Abnormal B cell subset distribution
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101020 | F | 210008![]() |
- | 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 | 210182![]() |
- | Caucasian | Reduced number of B cells | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:II.6(B.II.4)]; PMID:30250467 [B.II.4]; PMID:29729943 [Fam.B:II.6(B.II.4 (16))]; PMID:34975878 [Fam.F014:III.6(P015)]; PMID:27418640 [P14(5)] |
101045 | M | 210205![]() |
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 | 212603![]() |
- | 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 | 210012![]() |
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 | 210189![]() |
- | German | Decreased proportion of switched memory B cells | Adenosine deaminase 2 deficiency | PMID:28493328 [P6]; PMID:26922074 [Fam.Index:II.1(sister1)] |
101401 | F | 210205![]() |
- | 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 | 210189![]() |
- | 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 | 210205![]() |
47 | Caucasian | Reduced number of B cells | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.8(A.II.5)]; PMID:29729943 [Fam.A:II.8(A.II.5 (4))]; PMID:27418640 [P7(5)] |
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 | 210656![]() |
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 | 210020![]() |
- | German | Reduced number of B cells | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.105:II.1(P1)]; PMID:34975878 [Fam.F173:P173] |
101530 | M | 212460 | - | British | Reduced number of B cells | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:III.3(P5)] |
101532 | F | 212460 | - | British | Reduced number of B cells | Activated p110-delta syndrome 1 | PMID:24136356 [Fam.B:III.5(P6)] |
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 | 210205![]() |
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 | 212604![]() |
- | 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 | 212605![]() |
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 | 212618![]() |
1 | Jewish | Increased number of B cells | ARPC1B deficiency | PMID:29127144 [P1(II.1)] |
101597 | M | 212618![]() |
0 | Jewish | Increased number of B cells | ARPC1B deficiency | PMID:29127144 [Fam.P1:II.10(P2)]; PMID:30254128 [P7]; PMID:35767111 [P6] |
101611 | M | 212622![]() |
- | 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 | 212623![]() |
- | 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 | 212629![]() |
3 | Nepalese | Increased number of B cells | ARPC1B deficiency | PMID:30771411 [P4(II.1)] |
101667 | M | 212631![]() |
6 | Moroccan | Increased number of B cells | ARPC1B deficiency | PMID:30771411 [P6(II.2)]; PMID:35767111 [P5] |
101671 | F | 212632![]() |
4 | Iranian | Increased number of B cells | ARPC1B deficiency | PMID:30771411 [P7(IV.8)]; PMID:31710310 [Patient 2] |
101690 | F | 212636![]() |
4 | Jordanian | Reduced number of B cells | ARPC1B deficiency | PMID:30771411 [P13(IV.5)] |
101713 | F | 212643 | - | Jordanian | Reduced number of B cells | Agammaglobulinemia 4 | PMID:25893637 [Fam.P1:II.5(P2)] |
101774 | M | 210908![]() |
- | Argentinian | Decreased proportion of switched memory B cells | Adenosine deaminase 2 deficiency | PMID:28493328 [P9(II.1)] |
101788 | M | 210950![]() |
- | Swiss | Decreased proportion of switched memory B cells | Adenosine deaminase 2 deficiency | PMID:28493328 [P7(II.1)] |
101789 | M | 210950![]() |
- | 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 | 215769![]() |
- | Caucasian | Reduced number of B cells | NFKB1 insufficiency | PMID:34975878 [Fam.F259:P259]; PMID:32278790 [Fam.AT:III.2(III.2)]; PMID:150198 [Fam.BT:IV.1(319)]; PMID:31803180 [Fam.C:III.1(III.1)] |
101802 | F | 211221![]() |
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 | 211221![]() |
- | 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 | 214393![]() |
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 | 214393![]() |
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 | 214393![]() |
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 | 214767![]() |
3 | Georgian | Decreased proportion of switched memory B cells | Agammaglobulinemia 14 | PMID:33571536 [P-FR1(II.3)] |
102171 | F | 214852![]() |
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 | 214926![]() |
0 | Mexican | Increased number of B cells | ARPC1B deficiency | PMID:32683750 [case(II.3)]; PMID:36708766 [Fam.A:II.3(P2)] |
102262 | F | 214927![]() |
0 | Japanese | Reduced number of B cells | OAS1 immunodeficiency | PMID:29455859 [Fam.C:II.1]; PMID:34145065 [P5(II.1)]; PMID:29185156 [P2] |
102274 | F | 214929![]() |
0 | German | Reduced number of B cells | OAS1 immunodeficiency | PMID:34145065 [P1(II.2)] |
102277 | M | 214930![]() |
- | North American | Reduced number of B cells | OAS1 immunodeficiency | PMID:34145065 [P2(II.1)] |
102285 | F | 214932![]() |
0 | North American | Reduced number of B cells | OAS1 immunodeficiency | PMID:34145065 [P4(II.2)] |
102289 | M | 214934![]() |
- | Moroccan | Increased number of B cells | Otofaciocervical syndrome 2 | PMID:28657137 [V:1(V.1)]; PMID:32111619 [Fam.B:V.4(P2)] |
102410 | F | 214947![]() |
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 | 214962![]() |
5 | Polish | Decreased proportion of switched memory B cells | Immunodeficiency 94 | PMID:33517393 [Patient(III.7)] |
102477 | M | 214964![]() |
10 | Turkish | Reduced number of B cells | Hyper-IgE recurrent infection syndrome 4B | PMID:30309848 [Patient(III.5)] |
102530 | M | 214966![]() |
55 | Japanese | Increased proportion of marginal zone B cells | APRIL deficiency | PMID:32298700 [Patient(V.3)] |
102626 | M | 214969![]() |
- | Filipino | Reduced number of B cells | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.1:II.1(P1)] |
102637 | M | 214972![]() |
24 | Reduced number of B cells | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.4:II.2(P4)] | |
102731 | F | 214982![]() |
8 | Colombian | Reduced number of B cells | Immunodeficiency 99 | PMID:32484799 [Patient(II.2)] |
102735 | F | 214983![]() |
18 | North American | Reduced number of B cells | Autoinflammation, immune dysregulation, and eosinophilia | PMID:32750333 [Patient(II.2)] |
102814 | U | 214993![]() |
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 | 214993![]() |
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 | 214996![]() |
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 | 215001![]() |
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 | 215007![]() |
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 | 215008![]() |
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 | 215075![]() |
15 | Austrian | Reduced number of B cells | Immunodeficiency 97 | PMID:33054089 [Patient(II.1)] |
103062 | M | 215096![]() |
- | Finnish | Increased proportion of transitional B cells | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F2:II.2(P3)] |
103067 | F | 215097![]() |
3 | Finnish | Increased proportion of transitional B cells | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F3:II.3(P4)] |
103072 | F | 215098![]() |
25 | Finnish | Increased proportion of transitional B cells | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F4:II.1(P5)] |
103076 | F | 215099![]() |
2 | Omani | Reduced number of B cells | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.5(P6)] |
103110 | M | 215099![]() |
3 | Omani | Increased proportion of transitional B cells | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.2(P7)] |
103285 | F | 215112![]() |
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 | 215130![]() |
11 | Saudi | Increased number of B cells | infantile-onset multisystem autoimmune disease-3 | PMID:36006710 [Fam.2:II.2(P2)] |
103459 | M | 215131![]() |
4 | Omani | Increased number of B cells | infantile-onset multisystem autoimmune disease-3 | PMID:36006710 [Fam.3:II.1(P3)] |
103462 | F | 215132![]() |
0 | Moroccan | Reduced number of B cells | ARPC1B deficiency | PMID:35767111 [P4(II.2)] |
103542 | M | 215156![]() |
- | Mexican | Reduced number of B cells | ARPC1B deficiency | PMID:36708766 [Fam.C:II.3(P5)] |
103547 | M | 215157![]() |
- | Mexican | Increased number of B cells | ARPC1B deficiency | PMID:36708766 [Fam.D:II.4(P6)] |
103830 | F | 215256![]() |
- | European | Increased proportion of naive B cells | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.1:II.2(P1)] |
103834 | F | 215257![]() |
- | European | Reduced number of B cells | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.2:II.3(P2)] |
103839 | M | 215258![]() |
- | European | Increased proportion of naive B cells | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.3:II.3(P3)] |
103848 | M | 215260![]() |
- | 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 | 215520![]() |
2 | French | Increased number of B cells | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36122175 [Patient] |
104398 | M | 215522![]() |
- | Czech | Increased number of B cells | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36932076 [P3(II.1)] |
104410 | M | 215525![]() |
1 | Japanese | Decreased proportion of transitional B cells | Early-onset atopic inflammation | PMID:36538978 [Patient(II.2)] |
104414 | M | 215526![]() |
9 | Turkish | Reduced number of B cells | Early-onset atopic inflammation | PMID:36758835 [Patient(V.3)] |
104453 | F | 215530![]() |
- | European | Reduced number of B cells | Early-onset atopic inflammation | PMID:36884218 [Fam.D:II.1(P5)] |
104481 | M | 215536![]() |
10 | Caucasian | Reduced number of B cells | Early-onset atopic inflammation | PMID:36884218 [Fam.J:IV.2(P14)] |
104491 | M | 215536![]() |
8 | Caucasian | Reduced number of B cells | Early-onset atopic inflammation | PMID:36884218 [Fam.J:IV.3(P15)] |
104519 | F | 215537 | - | Gypsy | 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 | 215546![]() |
- | Caucasian | Reduced number of B cells | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.C:II.1(Patient C)] |
104535 | M | 215547![]() |
- | 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 | 215547![]() |
- | 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 | 215549![]() |
- | 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 | 215550![]() |
- | 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 | 215551![]() |
- | 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 | 215556![]() |
- | Decreased proportion of marginal zone B cells | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.A:II.3(P1)] | |
104713 | M | 215571![]() |
- | Iranian | Increased number of B cells | Severe early onset systemic inflammation and autoimmunity | PMID:37382373 [Fam.1:VI.5(VI.4)] |
104741 | M | 215572![]() |
- | French | Increased number of B cells | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:III.6] |
104771 | M | 215572![]() |
- | French | Reduced number of B cells | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:IV.5] |
104773 | F | 215572![]() |
- | French | Increased number of B cells | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:IV.7] |
104782 | M | 215572![]() |
1 | French | Increased number of B cells | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:V.2] |
104786 | F | 215573![]() |
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 | 215577![]() |
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 | 215579![]() |
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 | 215579![]() |
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 | 215579![]() |
48 | European | Reduced number of B cells | NFKB1 insufficiency | PMID:32278790 [Fam.NZ:II.2(II.2)]; PMID:26279205 [Fam.NZ:II.2(II2)]; PMID:29403474 [Fam.NZ (5):II.2(II2)]; PMID:29806948 [Fam.NZ:II.2(II.2)]; PMID:30323807 [Fam.2:II.2(II.2)]; PMID:150198 [Fam.AC:II.2(109)] |
104846 | F | 215580 | 0 | Egyptian | Reduced number of B cells | Omenn syndrome 2 | PMID:30307608 [1] |
104875 | M | 215579![]() |
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 | 215579![]() |
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 | 215620![]() |
- | 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 | 215622![]() |
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 | 215624![]() |
- | French | Increased proportion of naive B cells | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [P1(III.4)] |
105025 | F | 215626![]() |
- | French | Reduced number of B cells | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:32392079 [P1]; PMID:29590538 [Patient]; PMID:35677041 [Pt8] |
105045 | M | 215631![]() |
24 | Caucasian | Reduced number of B cells | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P10] |
105065 | M | 215624![]() |
- | French | Increased proportion of naive B cells | Hyper-IgE recurrent infection syndrome 1 | PMID:31346092 [Fam.P1:III.5(P7)] |
105066 | F | 215624![]() |
- | 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 | 215640![]() |
- | European | Reduced number of B cells | NFKB1 insufficiency | PMID:32278790 [Fam.A:III.3(III.3)]; PMID:29477724 [Fam.A:III.3(III:3)]; PMID:150198 [Fam.AU:III.3(236)]; PMID:32918165 [Fam.A:III.3(Index)] |
105110 | M | 215644 | - | Reduced number of B cells | NFKB1 insufficiency | PMID:27379089 [P3]; PMID:32278790 [U.I.3]; PMID:29403474 [Patient 3 (10)]; PMID:150198 [Fam.AH:145] | |
105111 | F | 215645 | - | Reduced number of B cells | NFKB1 insufficiency | PMID:27379089 [P4]; PMID:32278790 [AR.I.4]; PMID:29403474 [Patient 4 (10)]; PMID:150198 [Fam.AI:146] | |
105112 | F | 215646 | - | Reduced number of B cells | NFKB1 insufficiency | PMID:27379089 [P5]; PMID:32278790 [BM.I.5]; PMID:29403474 [Patient 5 (10)]; PMID:150198 [Fam.AJ:147] | |
105129 | M | 215647![]() |
- | Reduced number of B cells | NFKB1 insufficiency | PMID:27379089 [Fam.1:c1(P1)]; PMID:32278790 [Fam.BA:II.1(II.1)]; PMID:29403474 [Fam.(10):c1(Patient 1)]; PMID:150198 [Fam.AG:IV.1(143)] | |
105130 | F | 215647![]() |
- | Reduced number of B cells | NFKB1 insufficiency | PMID:27379089 [Fam.1:c2(P2)]; PMID:32278790 [Fam.BA:II.2(II.2)]; PMID:29403474 [Fam.(10):c2(Patient 2)]; PMID:150198 [Fam.AG:IV.2(144)] | |
105131 | M | 215648 | 7 | Italian | Reduced number of B cells | NFKB1 insufficiency | PMID:32278790 [BG.I.1]; PMID:29403474 [Patient 1 (6)]; PMID:27923702 [Patient 1]; PMID:27555455 [Patient 1]; PMID:150198 [Fam.AN:160] |
105149 | M | 215654![]() |
21 | Chinese (China) | Increased number of B cells | Immunodeficiency, common variable, 14 | PMID:37350971 [Patient(II.1)]; PMID:37876937 [Fam.E:II.1(E.1)] |
105152 | F | 215655![]() |
- | Spanish | Reduced number of B cells | NFKB1 insufficiency | PMID:32278790 [V.I.1]; PMID:29403474 [Patient 26 (11)]; PMID:150198 [Fam.AK:I.2(149)]; PMID:27461466 [Fam.827_01:26] |
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 | 215666![]() |
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 | 215670![]() |
0 | Increased number of B cells | T-negative/B-positive SCID type 1 | PMID:7659163 [Fam.1:II.1(G.M.)] | |
105212 | F | 215666![]() |
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 | 215666![]() |
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 | 215666![]() |
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 | 215666![]() |
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 | 215671![]() |
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 | 215671![]() |
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 | 215672![]() |
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 | 215672![]() |
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 | 215674![]() |
- | 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 | 215674![]() |
- | 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 | 215685![]() |
- | 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 | 215640![]() |
- | 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 | 215640![]() |
- | 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 | 215640![]() |
- | 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 | 215686![]() |
- | European | Reduced number of B cells | NFKB1 insufficiency | PMID:32278790 [Fam.C:I.2(I.2)]; PMID:29477724 [Fam.C:I.2(I:2)]; PMID:150198 [Fam.AW:I.2(246)] |
105301 | M | 215686![]() |
- | European | Reduced number of B cells | NFKB1 insufficiency | PMID:32278790 [Fam.C:II.4(II.3)]; PMID:29477724 [Fam.C:II.4(II:3)]; PMID:150198 [Fam.AW:II.3(249)] |
105302 | M | 215686![]() |
- | European | Reduced number of B cells | NFKB1 insufficiency | PMID:32278790 [Fam.C:II.5(II.5)]; PMID:29477724 [Fam.C:II.5(II:5)]; PMID:150198 [Fam.AW:II.5(251)] |
105304 | F | 215686![]() |
- | 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 | 215686![]() |
- | 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 | 215686![]() |
- | 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 | 215687![]() |
- | European | Reduced number of B cells | NFKB1 insufficiency | PMID:32278790 [Fam.D:II.2(II.2)]; PMID:29477724 [Fam.D:II.2(II:2)]; PMID:150198 [Fam.AX:II.2(260)] |
105311 | F | 215687![]() |
- | 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 | 215688![]() |
- | European | Reduced number of B cells | NFKB1 insufficiency | PMID:32278790 [E.II.1]; PMID:29477724 [Fam.E:II.1(II:1)]; PMID:150198 [Fam.AY:II.2(264)]; PMID:36105815 [Fam.I281M:II.2(I281M/1)] |
105314 | F | 215689 | - | European | Reduced number of B cells | NFKB1 insufficiency | PMID:32278790 [F.II.1]; PMID:29477724 [Fam.F:II.1(II:1)]; PMID:150198 [Fam.AZ:265]; PMID:36105815 [V98D] |
105315 | F | 215690 | - | European | Reduced number of B cells | NFKB1 insufficiency | PMID:32278790 [G.II.1]; PMID:29477724 [Fam.G:II.1(II:1)]; PMID:150198 [Fam.BA:266]; PMID:36105815 [I87S] |
105317 | M | 215692![]() |
- | 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 | 215762![]() |
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 | 215765![]() |
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 | 215766![]() |
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 | 215767![]() |
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 | 215772![]() |
- | Russian | Reduced number of B cells | NFKB1 insufficiency | PMID:32278790 [AO.I.1]; PMID:150198 [Fam.BS:I.1(317)]; PMID:31803180 [Fam.B:I.1(S2)]; PMID:34619682 [P.122] |
105465 | M | 215772![]() |
32 | Russian | Reduced number of B cells | NFKB1 insufficiency | PMID:150198 [Fam.BS:II.1(319)]; PMID:31803180 [Fam.B:II.1(S3)] |
105466 | M | 215772![]() |
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 | 215776![]() |
- | European | Reduced number of B cells | Ezrin immunodeficiency | PMID:37301410 [P1(II.4)] |
105481 | M | 215777![]() |
- | Haitian/Hispanic | Decreased proportion of switched memory B cells | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.A:II.1(A.1)] |
105484 | F | 215778![]() |
- | Caucasian | Decreased proportion of switched memory B cells | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.B:III.1(B.III.1)] |
105487 | F | 215780![]() |
- | Afro-American | Decreased proportion of switched memory B cells | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.G:II.1(G.1)] |
105504 | F | 215783![]() |
- | Asian | Decreased proportion of switched memory B cells | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.E:II.1(E.1)] |
105509 | M | 215784![]() |
- | Caucasian | Decreased proportion of switched memory B cells | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.D:II.1(D.II.1)] |
105513 | F | 215787![]() |
- | 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 | 215831![]() |
- | 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 | 215871![]() |
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 | 215877![]() |
- | Spanish | Decreased proportion of switched memory B cells | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.1:II.1(1.1)] |
105793 | M | 215877![]() |
- | Spanish | Decreased proportion of switched memory B cells | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.1:I.2(1.2)] |
105839 | M | 215888![]() |
- | Romani | Decreased proportion of switched memory B cells | Immunodeficiency, common variable, 14 | PMID:37876937 [Fam.3:II.1(3.1)] |
105934 | M | 215910![]() |
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 | 215946![]() |
0 | Saudi | Reduced number of B cells | T-cell immunodeficiency with thymic aplasia | PMID:33464451 [P11]; PMID:37419334 [P11(27)]; PMID:31151968 [Fam.1:II.2(Patient)] |
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 | 215981![]() |
54 | Chinese (China) | Reduced number of B cells | NFKB1 insufficiency | PMID:150198 [Fam.FO:II.5(717)]; PMID:36571238 [Fam.1:II.5(II:5[P1])] |
106312 | M | 215981![]() |
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 | 216003![]() |
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 | 216006![]() |
- | German | Decreased proportion of switched memory B cells | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [III.3(III.3)] |
106402 | F | 216006![]() |
22 | German | Reduced number of B cells | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:36273440 [Fam.III.3:III.2] |
106409 | M | 216010![]() |
42 | Chinese (China) | Reduced number of B cells | NFKB1 insufficiency | PMID:150198 [Fam.FT:II.2(741)]; PMID:37775675 [Fam.1:II.2(patient)] |
106463 | F | 216023![]() |
- | Japanese | Reduced number of B cells | NFKB1 insufficiency | PMID:150198 [Fam.FX:II.3(779)]; PMID:38514645 [Fam.1:II.3(proband)] |
106470 | F | 216023![]() |
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 | 216081![]() |
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 | 216089![]() |
- | 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 | 216089![]() |
- | 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 | 216089![]() |
- | 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 | 216096![]() |
- | 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 | 216122![]() |
1 | Chinese (China) | Increased number of B cells | T-negative/B-positive SCID type 1 | PMID:31309596 [Pt(II.2)] |
106794 | F | 216145![]() |
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 | 216145![]() |
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 | 216163![]() |
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 | 216169![]() |
40 | Caucasian | Reduced number of B cells | Adenosine deaminase 2 deficiency | PMID:29963054 [P1(II.1)] |
106939 | M | 216189![]() |
- | Caucasian | Reduced number of B cells | NFKB1 insufficiency | PMID:150198 [Fam.FW:II.1(772)]; PMID:38423196 [Fam.1:II.1(P1)] |
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 | 216365![]() |
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).