Generalized lymphadenopathy
Preferred term: Generalized lymphadenopathy
Alt. terms: Generalized swelling of lymph nodes | Generalized lymphadenomegaly
HPO term: Generalized lymphadenopathy
HPO code: HP:0008940
GenIA ID: 58
Last updated on: 2023-10-05 14:29:09
Cross ref. to other ontologies
NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: R59.1
Description
swollen lymph glands in many areas of the body. It can be defined as the enlargement of more than two non-contiguous lymph node groups.
Hierarchical classification
Reported patients added to GenIA
| SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
|---|---|---|---|---|---|---|---|
| 101015 | M | 210203 | 33 | German | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [MM.II.1]; PMID:29729943 [MM.II.1 (87)]; PMID:34975878 [Fam.F002:P002]; PMID:31857261 [Patient 3]; PMID:34111452 [AM.II.1 (87)]; PMID:37740092 [P25] |
| 101017 | F | 210232 | - | German | Lymphadenopathy | PMID:34975878 [Fam.F003:P003] | |
| 101019 | F | 210316 | - | German | Lymphadenopathy | PMID:34975878 [Fam.F004:P004] | |
| 101020 | F | 210008 |
- | German | Lymphadenopathy | 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] |
| 101021 | M | 210359 | 57 | German | Lymphadenopathy | PMID:34975878 [Fam.F006:P006] | |
| 101023 | M | 210731 | 50 | German | Lymphadenopathy | PMID:34975878 [Fam.F008:P008] | |
| 101024 | F | 210927 | - | Lymphadenopathy | PMID:34975878 [Fam.F009:P009] | ||
| 101026 | M | 210215 | 24 | Lymphadenopathy | PMID:34975878 [Fam.F011:P011] | ||
| 101037 | M | 210182 |
- | Caucasian | Generalized lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:II.4(B.II.3)]; PMID:30250467 [B.II.3]; PMID:29729943 [Fam.B:II.4(B.II.3 (15))]; PMID:27418640 [P13(5)]; PMID:34111452 [B.II.3 (15)]; PMID:39218359 [15] |
| 101043 | M | 210725 |
- | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.H:II.2(H.II.2 (30))]; PMID:34975878 [Fam.F017:P017]; PMID:34111452 [H.II.2 (30)] |
| 101045 | M | 210205 |
22 | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:III.13(A.III.3)]; PMID:29729943 [Fam.A:III.13(A.III.3 (9))]; PMID:34975878 [Fam.F018:III.2(P018)]; PMID:27418640 [P11(5)]; PMID:34111452 [A.III.3 (9)] |
| 101059 | M | 211386 | - | Lymphadenopathy | PMID:34975878 [Fam.F030:P030]; PMID:31057532 [Fam.F:II.1] | ||
| 101076 | F | 210226 | 9 | German | Lymphadenopathy | PMID:34975878 [Fam.F041:P041] | |
| 101077 | F | 210211 | 22 | German | Lymphadenopathy | PMID:34975878 [Fam.F043:P043] | |
| 101078 | F | 211301 | - | Lymphadenopathy | PMID:34975878 [Fam.F044:P044] | ||
| 101080 | F | 211150 | 61 | Lymphadenopathy | PMID:34975878 [Fam.F046:P046] | ||
| 101083 | M | 210479 | 37 | German | Lymphadenopathy | PMID:34975878 [Fam.F049:P049] | |
| 101088 | M | 211560 | - | German | Lymphadenopathy | PMID:34975878 [Fam.F054:P054] | |
| 101090 | M | 211257 | 30 | German | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F056:P056]; PMID:37740092 [P13]; PMID:39218359 [36] |
| 101091 | M | 210911 | 22 | Lymphadenopathy | DiGeorge syndrome | PMID:34975878 [Fam.F057:P057]; PMID:35486341 [P180] | |
| 101093 | M | 211289 | - | German | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:34975878 [Fam.F059:P059]; PMID:31857261 [Patient 4] |
| 101103 | F | 211424 | - | Lymphadenopathy | PMID:34975878 [Fam.F065:P065] | ||
| 101115 | F | 210778 | - | Caucasian | Lymphadenopathy | NFKB1 insufficiency | PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427] |
| 101118 | F | 210735 | 35 | Lymphadenopathy | Thrombophilia due to Factor V Leiden | PMID:31057532 [Fam.C:II.1] | |
| 101119 | M | 210264 | - | Lymphadenopathy | PMID:34975878 [Fam.F070:P070] | ||
| 101120 | M | 210221 | 52 | German | Lymphadenopathy | PMID:34975878 [Fam.F071:P071] | |
| 101122 | M | 210197 |
19 | Italian | Lymphadenopathy | NFKB1 insufficiency | PMID:34975878 [Fam.F073:P073]; PMID:150198 [Fam.DZ:II.2(548)] |
| 101123 | M | 210255 | 8 | Lymphadenopathy | PMID:34975878 [Fam.F074:P074] | ||
| 101127 | F | 210318 | 35 | German | Generalized lymphadenopathy | PMID:34975878 [Fam.F077:P077] | |
| 101131 | F | 210337 | 56 | German | Generalized lymphadenopathy | PMID:34975878 [Fam.F080:P080] | |
| 101147 | F | 211145 | - | Lymphadenopathy | PMID:34975878 [Fam.F090:P090] | ||
| 101150 | F | 210736 | 7 | Generalized lymphadenopathy | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F093:P093] | |
| 101154 | F | 210005 | - | Lymphadenopathy | PMID:34975878 [Fam.F097:P097] | ||
| 101155 | M | 210235 | 28 | German | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [JJ.II.I]; PMID:29729943 [JJ.II.1 (83)]; PMID:34975878 [Fam.F098:P098]; PMID:34111452 [AJ.II.1 (83)] |
| 101159 | M | 211131 | - | Lymphadenopathy | PMID:34975878 [Fam.F100:P100] | ||
| 101161 | M | 211455 | - | Lymphadenopathy | PMID:34975878 [Fam.F102:P102] | ||
| 101165 | M | 211461 | - | Lymphadenopathy | PMID:34975878 [Fam.F106:P106] | ||
| 101178 | M | 210542 | - | Lymphadenopathy | PMID:34975878 [Fam.F114:P114] | ||
| 101199 | F | 211483 | - | German | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [YY.II.1 (127)]; PMID:34975878 [Fam.F122:P122]; PMID:34111452 [AY.II.1 (127)]; PMID:37740092 [P10] |
| 101203 | M | 211488 | - | Lymphadenopathy | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F125:P125] | |
| 101204 | M | 211492 | 56 | German | Generalized lymphadenopathy | PMID:34975878 [Fam.F126:P126] | |
| 101312 | M | 212149 | 10 | Lebanese | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:25468195 [Fam.B:II.1(P2)]; PMID:26707784 [P16] |
| 101313 | F | 212149 | 13 | Lebanese | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:25468195 [Fam.B:II.2(P3)]; PMID:26707784 [P17] |
| 101343 | M | 210134 | - | Italian | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.B:II.2(P3)]; PMID:26707784 [P3] |
| 101369 | M | 212161 | - | Turkish | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:30479781 [P1(V.1)] |
| 101371 | M | 212161 | - | Turkish | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:30479781 [Fam.P1:V.2(P2)] |
| 101375 | F | 212162 | - | Iranian | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.1:II.1(P1)]; PMID:29528757 [Case 3]; PMID:26707784 [Fam.F:IV.1(P30)]; PMID:25011360 [Case 2]; PMID:26993986 [Fam.F7:II.1(1)]; PMID:28512785 [P8] |
| 101376 | F | 212162 | 6 | Iranian | Generalized lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.1:II.2(P2)]; PMID:29528757 [Case 4]; PMID:26707784 [Fam.F:IV.2(P31)]; PMID:26993986 [Fam.F7:II.2(2)]; PMID:28512785 [P9] |
| 101379 | M | 212163 | - | Iranian | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.2:II.2(P3)]; PMID:26707784 [Fam.C:IV.4(P25)]; PMID:26993986 [F4]; PMID:28512785 [P10] |
| 101382 | M | 210641 | 46 | German | Lymphadenopathy | Immunodeficiency, common variable, 1 | PMID:15507387 [Fam.C:II.3(II.3)]; PMID:16384931 [Fam.C:II.3(P5)]; PMID:19426217 [Fam.C:II.3(P5)]; PMID:28861081 [Fam.3:II.3(P5)] |
| 101386 | F | 212164 | 4 | Pakistani | Generalized lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:22981790 [P1(II.1)]; PMID:26707784 [P11] |
| 101388 | M | 212165 | 3 | Palestinian | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:25931386 [Fam.1:P1]; PMID:26707784 [P20] |
| 101389 | M | 212166 | 7 | Palestinian | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:25931386 [Fam.2:II.1(P2)]; PMID:26707784 [P21] |
| 101392 | M | 212166 | 2 | Palestinian | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:25931386 [Fam.2:II.3(P4)]; PMID:26707784 [P23] |
| 101403 | M | 210189 |
- | German | Lymphadenopathy | Adenosine deaminase 2 deficiency | PMID:28493328 [P3]; PMID:26922074 [Index(II.2)] |
| 101404 | M | 210348 | 17 | Lymphadenopathy | PMID:34975878 [Fam.F139:P139] | ||
| 101421 | F | 212170 | 6 | Iranian | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:26707784 [Fam.B:IV.1(P24)]; PMID:26993986 [F5]; PMID:28512785 [P15] |
| 101424 | M | 212172 | 8 | Iranian | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:29528757 [Case 6]; PMID:26707784 [Fam.D:IV.1(P27)]; PMID:26993986 [F8]; PMID:28512785 [P13] |
| 101426 | M | 212173 | 3 | Iranian | Lymphadenopathy | 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] |
| 101435 | F | 212171 | 4 | Lebanese | Generalized lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:26707784 [P29(II.1)] |
| 101441 | M | 212174 | 8 | North American | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:26206937 [P6] |
| 101443 | M | 212175 | 1 | North American | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:26206937 [P7] |
| 101444 | F | 210640 | - | Lymphadenopathy | PMID:34975878 [Fam.F145:P145] | ||
| 101457 | F | 211027 | - | Lymphadenopathy | PMID:34975878 [Fam.F152:P152] | ||
| 101458 | F | 210656 |
- | Georgian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.E:II.3(E.II.3)]; PMID:29729943 [E.II.3 (23)]; PMID:27418640 [P19(5)]; PMID:34111452 [E.II.3 (23)] |
| 101461 | M | 210929 | - | German | Lymphadenopathy | 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] |
| 101462 | M | 210006 | - | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F154:P154] | |
| 101469 | F | 210220 |
- | German | Lymphadenopathy | NFKB1 insufficiency | PMID:34975878 [Fam.F156:P156]; PMID:32278790 [Fam.089:II.2(II.2)]; PMID:26279205 [Fam.089:II.2(II2)]; PMID:29403474 [Fam.089 (5):II.2(II2)]; PMID:27923702 [Patient 5]; PMID:150198 [Fam.AB:IV.5(099)]; PMID:27461466 [Fam.089:II.2(25)] |
| 101478 | F | 210353 | - | Lymphadenopathy | PMID:34975878 [Fam.F159:P159] | ||
| 101479 | F | 210314 |
-,- | German | Generalized lymphadenopathy,Lymphadenopathy | NFKB1 insufficiency | PMID:34975878 [Fam.F160:P160]; PMID:32278790 [Fam.BF:II.2(II.2)]; PMID:29403474 [Fam.(13):II.1(Patient 2)]; PMID:27923702 [Fam.191:II.1(Patient 2)]; PMID:150198 [Fam.AO:II.2(164)]; GRID:001142 [Fam.#:II.2(FR036)] |
| 101485 | F | 210498 | - | German | Lymphadenopathy | PMID:34975878 [Fam.F162:P162] | |
| 101488 | M | 210401 |
- | German | Lymphadenopathy | NFKB1 insufficiency | PMID:34975878 [Fam.F163:P163]; PMID:32278790 [CG.I.1]; PMID:150198 [Fam.BW:II.1(350)]; PMID:31857261 [Patient 16] |
| 101492 | M | 210594 | - | German | Lymphadenopathy | NFKB1 insufficiency | PMID:34975878 [Fam.F165:P165]; PMID:150198 [Fam.GE:800] |
| 101504 | F | 211125 | - | Lymphadenopathy | PMID:34975878 [Fam.F169:P169] | ||
| 101535 | M | 210775 | - | Lymphadenopathy | PMID:34975878 [Fam.F177:P177] | ||
| 101537 | M | 210949 | - | Lymphadenopathy | PMID:34975878 [Fam.F178:P178] | ||
| 101544 | F | 211170 | - | Lymphadenopathy | PMID:34975878 [Fam.F180:P180] | ||
| 101553 | M | 210256 | - | German | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F182:P182] |
| 101564 | M | 210361 | - | German | Lymphadenopathy | PMID:34975878 [Fam.F187:P187] | |
| 101565 | M | 211008 |
- | Caucasian | Lymphadenopathy | NFKB1 insufficiency | PMID:34975878 [Fam.F188:P188]; PMID:32278790 [Fam.BS:II.1(II.1)]; PMID:150198 [Fam.DD:II.1(457)]; PMID:36105815 [Fam.M216V:II.1(M216V/1)] |
| 101604 | M | 212620 |
- | Italian | Lymphadenopathy | ARPC1B deficiency | PMID:30254128 [Fam.B:II.1(P2)]; PMID:30771411 [P3]; PMID:35967303 [Pt1]; PMID:35767111 [P1] |
| 101608 | M | 212621 |
- | Canadian | Lymphadenopathy | ARPC1B deficiency | PMID:30254128 [Fam.C:II.1(P3)]; PMID:16019263 [case]; PMID:35967303 [Pt3] |
| 101611 | M | 212622 |
- | Colombian | Lymphadenopathy | ARPC1B deficiency | PMID:30254128 [Fam.D:II.4(P4)] |
| 101617 | M | 210994 | 52 | Lymphadenopathy | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F212:P212] | |
| 101631 | F | 212624 |
- | Turkish | Lymphadenopathy | ARPC1B deficiency | PMID:30254128 [Fam.F:II.1(P6)] |
| 101642 | M | 210915 | - | Lymphadenopathy | PMID:34975878 [Fam.F223:P223] | ||
| 101648 | M | 211026 | - | Lymphadenopathy | PMID:34975878 [Fam.F225:P225] | ||
| 101664 | M | 211085 | - | Lymphadenopathy | PMID:34975878 [Fam.F232:P232] | ||
| 101693 | M | 212637 |
- | Nepalese | Lymphadenopathy | ARPC1B deficiency | PMID:30771411 [P14(II.1)] |
| 101706 | F | 211545 | - | Lymphadenopathy | PMID:34975878 [Fam.F245:P245] | ||
| 101708 | F | 211547 | - | Lymphadenopathy | PMID:34975878 [Fam.F246:P246] | ||
| 101717 | F | 210260 |
7 | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.C:II.3(C.II.3)]; PMID:29729943 [Fam.C:II.3(C.II.3 (19))]; PMID:27418640 [P16(5)]; PMID:34111452 [C.II.3 (19)] |
| 101720 | F | 210022 | 4 | Iranian | Generalized lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.134:II.2(P5)]; PMID:25539626 [P1(II.1)]; PMID:26707784 [P12] |
| 101722 | F | 210261 |
- | Asian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.D:II.1(D.II.1)]; PMID:29729943 [Fam.D:II.1(D.II.1 (22))]; PMID:27418640 [P18(5)]; PMID:34111452 [D.II.1 (22)] |
| 101748 | F | 210573 | - | Lymphadenopathy | PMID:34975878 [Fam.F248:P248] | ||
| 101753 | M | 210024 | - | Japanese | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.1(P10)] |
| 101754 | M | 210024 | - | Japanese | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.553:II.2(P11)] |
| 101755 | M | 210025 | 12 | North American | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.604:II.1(P12)]; PMID:26206937 [P1(II.1)] |
| 101757 | M | 210026 | 11 | North American | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.605:P14]; PMID:26206937 [P3] |
| 101764 | F | 210031 | - | Dutch | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.656:P19] |
| 101768 | M | 210789 | 36 | Lymphadenopathy | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F250:P250] | |
| 101777 | F | 210920 | - | Libyan | Generalized lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:26745254 [P1(II.1)] |
| 101790 | M | 210960 | - | Lymphadenopathy | PMID:34975878 [Fam.F254:P254] | ||
| 101792 | M | 210991 |
- | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.11(NN.II.9 (92))]; PMID:34111452 [AN.II.9 (92)] |
| 101798 | M | 211117 | - | Lymphadenopathy | Adenosine deaminase 2 deficiency | PMID:28493328 [P11] | |
| 101800 | M | 215769 |
- | Caucasian | Lymphadenopathy | 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)] |
| 101808 | F | 211441 | - | Lymphadenopathy | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F265:P265] | |
| 101814 | F | 211527 | - | German | Lymphadenopathy | NFKB1 insufficiency | PMID:34975878 [Fam.F274:P274]; PMID:32278790 [AK.I.1]; PMID:150198 [Fam.CP:435] |
| 101817 | F | 211536 | - | Lymphadenopathy | PMID:34975878 [Fam.F279:P279] | ||
| 101826 | F | 211561 | 35 | German | Lymphadenopathy | PMID:34975878 [Fam.F290:P290] | |
| 101840 | F | 211591 | - | Lymphadenopathy | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F301:P301] | |
| 101843 | M | 211371 | - | German | Lymphadenopathy | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F404:P404] |
| 101849 | F | 211636 | - | Lymphadenopathy | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F311:P311] | |
| 101912 | F | 211848 | - | Lymphadenopathy | PMID:34975878 [Fam.F338:P338] | ||
| 101915 | F | 211935 | 34 | German | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F341:P341] |
| 101949 | M | 211958 | 59 | Lymphadenopathy | PMID:34975878 [Fam.F351:P351] | ||
| 101951 | M | 212062 | - | Lymphadenopathy | PMID:34975878 [Fam.F375:P375] | ||
| 102058 | M | 214276 | - | Iranian | Lymphadenopathy | Immunodeficiency 103, susceptibility to fungal infection | PMID:34390440 [HIES04] |
| 102124 | F | 214351 |
- | Sudanese | Lymphadenopathy | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.5(B.II.4)] |
| 102129 | F | 214351 |
- | Sudanese | Lymphadenopathy | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.1(B.II.1)] |
| 102155 | U | 214597 | - | Italian | Lymphadenopathy | Familial Cold Autoinflammatory Syndrome 2 | PMID:21538323 [P2] |
| 102157 | F | 214681 |
- | Italian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:II.5(R.II.5 (45))]; PMID:34111452 [R.II.5 (45)] |
| 102175 | M | 210725 |
- | Caucasian | Generalized lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [H.II.1]; PMID:29729943 [Fam.H:II.1(H.II.1 (29))]; PMID:34111452 [H.II.1 (29)] |
| 102180 | F | 214912 | - | Chinese (China) | Lymphadenopathy | Severe combined immunodeficiency 9A, T-B- | PMID:26476733 [P7] |
| 102222 | M | 214917 | - | German | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C] |
| 102223 | F | 214918 | 56 | German | Lymphadenopathy | Familial autoinflammatory Behcet-like syndrome | PMID:35486341 [P191] |
| 102357 | M | 214937 |
- | German | Lymphadenopathy | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.A:II.1(P1)] |
| 102374 | M | 214944 |
- | Saudi | Lymphadenopathy | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:V.I(P7)] |
| 102466 | M | 214962 |
0 | Polish | Generalized lymphadenopathy | Immunodeficiency 94 | PMID:33517393 [Patient(III.7)] |
| 102509 | M | 214948 |
2 | Irish Traveller | Lymphadenopathy | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.12(P3)]; PMID:22354167 [Fam.A:IV.12(P1.3)] |
| 102626 | M | 214969 |
15 | Filipino | Lymphadenopathy | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.1:II.1(P1)] |
| 102633 | M | 214971 |
7 | European | Lymphadenopathy | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.3:II.1(P3)] |
| 102641 | M | 214973 |
- | European | Lymphadenopathy | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.5:II.2(P5)] |
| 102645 | M | 214974 |
- | Caucasian | Lymphadenopathy | Immunodeficiency 98 with autoinflammation | PMID:33512449 [Fam.6:II.1(P6)] |
| 102648 | M | 214975 |
- | Czech | Lymphadenopathy | Immunodeficiency 98 with autoinflammation | PMID:34981838 [Fam.1:II.1(Patient A)] |
| 102649 | M | 214975 |
- | Czech | Lymphadenopathy | Immunodeficiency 98 with autoinflammation | PMID:34981838 [Fam.1:II.2(Patient B)] |
| 102661 | F | 214979 |
1 | Moroccan | Lymphadenopathy | Immunodeficiency 8 | PMID:23522482 [Fam.P3:V.2(P2)] |
| 102731 | F | 214982 |
8 | Colombian | Lymphadenopathy | Immunodeficiency 99 | PMID:32484799 [Patient(II.2)] |
| 102803 | F | 214991 |
15 | North American | Lymphadenopathy | Immunodeficiency 8 | PMID:25073507 [P1(II.2)] |
| 102871 | F | 215001 |
1 | Italian | Lymphadenopathy | 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)] |
| 102901 | F | 215008 |
- | Brasilian | Lymphadenopathy | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:35064468 [patient(II.2)] |
| 103288 | F | 215113 |
- | Hungarian | Lymphadenopathy | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.3:II.1(P4)] |
| 103292 | F | 215114 | - | German | Lymphadenopathy | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [P5] |
| 103293 | M | 215115 | 44 | Lymphadenopathy | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [P6] | |
| 103473 | F | 215134 |
- | French | Lymphadenopathy | Immunodeficiency 55 | PMID:28414293 [Fam.A:II.1(P1)]; PMID:14702466 [Fam.1:II.1(P1)] |
| 103477 | F | 215134 |
- | French | Lymphadenopathy | Immunodeficiency 55 | PMID:28414293 [Fam.A:II.3(P2)]; PMID:14702466 [Fam.1:II.3(P2)] |
| 103478 | M | 215135 |
- | French | Lymphadenopathy | Immunodeficiency 55 | PMID:28414293 [Fam.B:II.1(P3)] |
| 103482 | F | 215136 |
1 | British | Lymphadenopathy | Immunodeficiency 55 | PMID:28414293 [Fam.C:II.1(P4)] |
| 103859 | M | 215263 |
- | Turkish | Lymphadenopathy | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.8:II.1(P9)]; PMID:26233953 [Fam.F4:P5] |
| 103877 | F | 215266 |
2 | Finnish | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P2]; PMID:25349174 [Fam.2:II.2(Patient 2)]; PMID:35677041 [Pt2] |
| 103880 | F | 215269 |
6 | Finnish | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
| 103997 | M | 215318 |
- | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P1]; PMID:30092289 [P16] | |
| 103998 | M | 215319 |
- | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P2] | |
| 103999 | M | 215320 |
- | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P3] | |
| 104000 | M | 215321 | - | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P4] | |
| 104002 | F | 215323 |
- | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P6] | |
| 104004 | F | 215325 | - | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P8] | |
| 104005 | F | 215326 |
- | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.1:II.1(P9)]; PMID:35677041 [Pt4] | |
| 104007 | M | 215326 |
- | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.1:I.2(P10)]; PMID:35677041 [Pt5] | |
| 104008 | F | 215326 |
- | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.1:II.2(P11)] | |
| 104414 | M | 215526 |
0 | Turkish | Generalized lymphadenopathy | Early-onset atopic inflammation | PMID:36758835 [Patient(V.3)] |
| 104528 | M | 215543 | 0 | Iranian | Lymphadenopathy | Immunodeficiency 91 and hyperinflammation | PMID:33876776 [Fam.A:II.2(P1)] |
| 104554 | M | 215551 |
- | Pakistani | Lymphadenopathy | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27523608 [Fam.1:V.2(V:2)]; PMID:27559085 [Fam.1:V.2(P1)]; PMID:35587511 [Fam.G:II.2(4)]; PMID:34797715 [P1]; PMID:38914362 [Fam.A:V.2(023)] |
| 104580 | F | 215553 |
- | Turkish | Lymphadenopathy | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27559085 [Fam.3:II.1(P3)]; PMID:35587511 [Fam.H:II.1(3)]; PMID:34797715 [P3]; PMID:38914362 [Fam.C:II.1(039)] |
| 104642 | F | 215562 | 1 | Iraqi | Lymphadenopathy | Immunodeficiency 91 and hyperinflammation | PMID:33872655 [Fam.A:II.1(P1.1)] |
| 104790 | M | 215574 |
- | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.B:I.1(B.I.1)]; PMID:27418640 [P3(4)] | |
| 104791 | M | 215575 |
14,14 | Generalized lymphadenopathy,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.C:II.1(C.II.1)]; PMID:27418640 [P4(4)] | |
| 104796 | M | 215577 |
10 | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.D:II.4(D.II.1)]; PMID:27418640 [P5(4)] | |
| 104797 | M | 215577 |
- | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)] | |
| 104845 | F | 215579 |
- | European | Lymphadenopathy | 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)] |
| 104916 | M | 215613 |
- | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [G.III.2]; PMID:29729943 [Fam.G:III.2(G.III.2 (27))]; PMID:25367873 [Fam.1:III.5(III.5)]; PMID:34111452 [G.III.2 (27)] |
| 104932 | F | 215622 |
- | Dutch | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [Fam.NA:II.16(II.16)]; PMID:26279205 [Fam.NL1:II.20(18)]; PMID:29403474 [Fam.NL1 (5):II.20(18)]; PMID:11583829 [Fam.1:II.19(II:19)]; PMID:16639407 [Fam.1:II.20(18)]; PMID:150198 [Fam.AA:II.20(022)] |
| 105043 | F | 215630 |
- | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P9(II.1)]; PMID:29729943 [BBB.II.1 (131)]; PMID:34111452 [CH.II.1 (131)] |
| 105045 | M | 215631 |
- | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P10]; PMID:29729943 [CCC.II.1 (132)]; PMID:34111452 [CI.II.1 (132)] |
| 105046 | M | 215632 |
2 | Generalized lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28253502 [Fam.1:II.1(Patient 1)] | |
| 105050 | F | 215633 | 1 | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28253502 [Patient 2]; PMID:31857100 [P2] | |
| 105057 | F | 215635 |
- | German | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [S.I.1]; PMID:29403474 [Patient 1 (8)]; PMID:27365489 [Fam.1:II.1(Pat.1)]; PMID:150198 [Fam.AE:II.1(121)] |
| 105093 | F | 215639 |
- | Israeli | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [Fam.AA:II.2(II.2)]; PMID:29403474 [Patient 2 (8)]; PMID:27365489 [Fam.2:II.2(Pat.2)]; PMID:150198 [Fam.AF:II.2(127)] |
| 105102 | M | 215640 |
- | European | Lymphadenopathy | 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)] |
| 105105 | F | 215643 |
18,16 | Caucasian | Generalized lymphadenopathy,Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [Fam.AB:II.1(II.1)]; PMID:29403474 [Fam.(7):II.1(Index)]; PMID:27338827 [Fam.1:II.1(II-1)]; PMID:150198 [Fam.AD:II.1(117)] |
| 105129 | M | 215647 |
- | North American | Lymphadenopathy | NFKB1 insufficiency | PMID:27379089 [P1(c1)]; PMID:32278790 [Fam.BA:II.1(II.1)]; PMID:29403474 [Fam.(10):c1(Patient 1)]; PMID:150198 [Fam.AG:IV.1(143)] |
| 105142 | M | 210314 |
- | German | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [Fam.BF:II.1(II.1)]; PMID:29403474 [Fam.(13):II.2(Patient 3)]; PMID:27923702 [Fam.191:II.2(Patient 3)]; PMID:150198 [Fam.AO:II.3(165)] |
| 105172 | M | 215659 |
- | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [T.II.1 (48)]; PMID:27102614 [Fam.A:II.1(P1)]; PMID:34111452 [T.II.1 (48)]; PMID:39218359 [6] |
| 105175 | M | 215660 | - | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Q.II.1 (44)]; PMID:27102614 [Fam.B:I.1(P2)]; PMID:34111452 [Q.II.1 (44)]; PMID:39218359 [5] |
| 105176 | F | 215661 |
- | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:II.1(L.II.1 (35))]; PMID:27102614 [Fam.C:II.1(P3)]; PMID:34111452 [L.II.1 (35)]; PMID:39218359 [3] |
| 105179 | F | 215661 |
- | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:I.2(L.I.2 (34))]; PMID:27102614 [Fam.C:I.2(mother)]; PMID:34111452 [L.I.2 (34)] |
| 105180 | M | 215662 |
- | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [S.II.1 (47)]; PMID:27102614 [Fam.D:II.1(P5)]; PMID:34111452 [S.II.1 (47)]; PMID:39218359 [4] |
| 105220 | F | 215666 |
- | Finnish | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [Fam.F1:III.8(III.8)]; PMID:29403474 [Fam.1 (9):III.8(F1.III-8)]; PMID:28115215 [Fam.1:III.8(F1.III-8)]; PMID:150198 [Fam.AQ:III.8(182)]; PMID:36356849 [Fam.6:III.8(F6:III:8)]; PMID:36105815 [Fam.H67R:III.8(H67R/7)] |
| 105245 | M | 215674 |
- | Caucasian | Lymphadenopathy | NFKB1 insufficiency | PMID:29077208 [P2]; 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)] |
| 105248 | F | 215676 | 12 | Turkish | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:28956255 [P2(II.1)] |
| 105272 | M | 215681 | - | Saudi | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:28134088 [P1(II.1)] |
| 105301 | M | 215686 |
- | European | Lymphadenopathy | 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)] |
| 105313 | M | 215688 |
7 | European | Lymphadenopathy | 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)] |
| 105333 | F | 215695 | -,- | European | Generalized lymphadenopathy,Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [N.II.1]; PMID:29477724 [Fam.N:II.1(II:1)]; PMID:150198 [Fam.BH:286] |
| 105337 | U | 215699 | - | European | Lymphadenopathy | 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 | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [K.II.1]; PMID:29477724 [Fam.K:II.1(II:1)]; PMID:150198 [Fam.BE:280] |
| 105350 | M | 215712 | 5 | Omani | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:28690850 [P1] |
| 105357 | M | 215719 | 4 | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:29804237 [P1] | |
| 105363 | F | 215722 |
- | Afro-American | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.X:II.1(X.II.1 (59))]; PMID:28366794 [Fam.A:II.1(P1)]; PMID:34111452 [X.II.1 (59)] |
| 105399 | F | 215750 | - | Chinese (China) | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:34291137 [Fam.A:II.1(P1)] |
| 105406 | M | 215757 | 3 | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:31876783 [Patient 1] | |
| 105410 | M | 215760 | - | Indian | Generalized lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:33713070 [Case1] |
| 105424 | M | 215766 |
1 | Admixed | Generalized lymphadenopathy | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.F:II.1(P8)]; PMID:25457153 [Fam.1:II.2(P1)]; PMID:25075846 [Fam.1:II.2(older-sib)] |
| 105428 | M | 215766 |
2 | Admixed | Generalized lymphadenopathy | 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 |
- | Caucasian | Lymphadenopathy | NFKB1 insufficiency | PMID:150198 [Fam.BR:II.1(316)]; PMID:31803180 [Fam.A:II.1(S1)]; PMID:34619682 [P.200] |
| 105450 | F | 215770 |
- | Caucasian | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [BI.I.1]; PMID:150198 [Fam.BU:II.1(337)]; PMID:31803180 [Fam.D:II.1(S7)]; PMID:34619682 [P.150] |
| 105463 | M | 215772 |
- | Russian | Lymphadenopathy | 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] |
| 105470 | M | 215774 | - | Iranian | Lymphadenopathy | NFKB1 insufficiency | PMID:150198 [Fam.BP:309]; PMID:31117086 [P35] |
| 105471 | M | 215775 |
2 | Filipino | Lymphadenopathy | NFKB1 insufficiency | PMID:150198 [Fam.BQ:II.2(313)]; GRID:001021 [Fam.1:II.2(patient)]; PMID:36105815 [I142T] |
| 105481 | M | 215777 |
- | Haitian/Hispanic | Lymphadenopathy | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.A:II.1(A.1)] |
| 105484 | F | 215778 |
- | Caucasian | Lymphadenopathy | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.B:III.1(B.III.1)] |
| 105487 | F | 215780 |
- | Afro-American | Lymphadenopathy | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.G:II.1(G.1)] |
| 105504 | F | 215783 |
- | Asian | Lymphadenopathy | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.E:II.1(E.1)] |
| 105509 | M | 215784 |
- | Caucasian | Generalized lymphadenopathy | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.D:II.1(D.II.1)] |
| 105513 | F | 215787 |
- | Caucasian | Generalized lymphadenopathy | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.F:II.1(F.II.1)] |
| 105537 | M | 215793 | - | Lymphadenopathy | Activated p110-delta syndrome 1 | PMID:24698326 [P1] | |
| 105546 | M | 215800 |
- | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29867916 [N211(II.1)]; PMID:29729943 [O.II.1 (42)]; PMID:34111452 [O.II.1 (42)]; PMID:39218359 [38] |
| 105549 | F | 215801 |
11 | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29200144 [Fam.1:IV.1(P1)] |
| 105562 | M | 215805 | 4 | Turkish | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:31026575 [P1]; PMID:31432443 [P4] |
| 105563 | F | 215806 | 10 | Turkish | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:31026575 [P2]; PMID:31432443 [P6(II.1)] |
| 105564 | M | 215807 |
16 | Spanish | Lymphadenopathy | 4q24 deletion syndrome | PMID:29867916 [N227(II.1)]; PMID:150198 [Fam.BK:I.2(291)]; PMID:35784294 [case(II.1)] |
| 105649 | F | 215834 |
- | Spanish | Lymphadenopathy | NFKB1 insufficiency | PMID:29867916 [N234]; PMID:32278790 [Fam.AV:II.1(II.1)]; PMID:150198 [Fam.BL:II.1(294)] |
| 105658 | M | 215836 | - | Lymphadenopathy | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.1(Sibling 1)] | |
| 105659 | F | 215836 | - | Lymphadenopathy | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.2(Sibling 2)] | |
| 105660 | F | 215836 | - | Lymphadenopathy | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.A:II.3(Sibling 3)] | |
| 105676 | M | 215838 |
- | Ecuadorian | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [Fam.AS:II.1(II.1)]; PMID:150198 [Fam.CB:II.1(402)] |
| 105679 | M | 215839 |
12 | Caucasian | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [Fam.BH:II.2(II.2)]; PMID:150198 [Fam.CD:II.1(409)] |
| 105687 | F | 215840 |
- | Caucasian | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [Fam.BL:I.1(I.1)]; PMID:150198 [Fam.CE:I.2(416)]; PMID:36105815 [Fam.H67Y:I.2(H67Y/1)] |
| 105690 | F | 215840 |
- | Caucasian | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [Fam.BL:II.1(II.1)]; PMID:150198 [Fam.CE:II.1(417)]; PMID:36105815 [Fam.H67Y:II.1(H67Y/2)] |
| 105714 | M | 211370 |
- | Turkish | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [Fam.AJ:III.1(III.1)]; PMID:150198 [Fam.BZ:III.1(380)]; GRID:001142 [Fam.*:III.1(FR095)] |
| 105731 | F | 215843 | - | Russian | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [Q.I.1]; PMID:150198 [Fam.CH:424] |
| 105740 | U | 215845 | - | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [R.I.1]; PMID:150198 [Fam.CI:425] | |
| 105744 | M | 215849 | - | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [AG.I.1]; PMID:150198 [Fam.CN:433] | |
| 105745 | M | 215850 | - | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [AI.I.1]; PMID:150198 [Fam.CO:434] | |
| 105746 | M | 215851 |
57 | Finnish | Lymphadenopathy | Immunodeficiency, common variable, 14 | PMID:34451894 [Patient(II.2)]; PMID:37876937 [Fam.C:II.2(C.1)] |
| 105747 | F | 215852 |
- | Dutch | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [Fam.AM:II.1(II.1)]; PMID:150198 [Fam.CA:II.1(399)] |
| 105750 | M | 215853 | - | North American | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [AP.I.1]; PMID:150198 [Fam.CQ:436] |
| 105751 | M | 215854 | - | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [AW.I.1]; PMID:150198 [Fam.CR:437] | |
| 105752 | M | 215855 | - | Russian | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [AX.I.1]; PMID:150198 [Fam.CS:438] |
| 105758 | M | 215861 | - | Iranian | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [BM.I.1]; PMID:150198 [Fam.CY:444]; PMID:36105815 [BM.I.1] |
| 105773 | M | 215866 | - | German | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [BU.I.1]; PMID:150198 [Fam.DF:463]; PMID:36105815 [A245V] |
| 105777 | M | 215870 | - | Iranian | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [CA.I.1]; PMID:150198 [Fam.DL:469]; PMID:36105815 [Fam.K326N/CA:K326N/2] |
| 105778 | F | 215871 |
9,11 | Spanish | Generalized lymphadenopathy,Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [CB.I.1]; PMID:150198 [Fam.DM:II.1(472)]; PMID:36105815 [Fam.G386R:II.1(G386R/1)] |
| 105780 | F | 215873 | - | German | Lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [CD.I.1]; PMID:150198 [Fam.DO:475] |
| 105799 | M | 215881 |
0,1 | Pakistani | Generalized lymphadenopathy,Lymphadenopathy | ?Combined immunodeficiency 41 | PMID:32980423 [Fam.1:V.2(1.V.2)]; PMID:150198 [Fam.DS:V.2(506)] |
| 105830 | M | 215887 | 2 | Polish | Lymphadenopathy | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.2 Sporadic pati:2 Sporadic patient 2] |
| 105859 | F | 215894 |
46 | British | Lymphadenopathy | Immunodeficiency, common variable, 2 | NFKB1 insufficiency | PMID:150198 [Fam.EA:I.2(551)]; PMID:150198 [Fam.EA:I.2(551)]; PMID:34922003 [Fam.A:I.2(A1)]; PMID:34922003 [Fam.A:I.2(A1)] |
| 105899 | F | 215900 |
4 | North American | Lymphadenopathy | NFKB1 insufficiency | PMID:150198 [Fam.DW:II.1(538)]; PMID:34307247 [Fam.1:II.1(daughter1)]; PMID:28802957 [Fam.1:II.1(II.1)] |
| 105910 | F | 215905 | 45 | Caucasian | Generalized lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [K.II.1]; PMID:29729943 [K.II.1 (33)]; PMID:34111452 [K.II.1 (33)] |
| 105926 | M | 215909 |
- | Japanese | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.N:III.2(N.III.2 (41))]; PMID:34111452 [N.III.2 (41)]; PMID:35087518 [Fam.12:III.2(12.4)] |
| 105957 | M | 215914 | - | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P.II.2 (43)]; PMID:34111452 [P.II.2 (43)]; PMID:39218359 [12] |
| 105973 | F | 215917 | - | Japanese | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [V.II.1 (53)]; PMID:34111452 [V.II.1 (53)]; PMID:35087518 [14.1]; PMID:28960754 [CTLA4-Case2] |
| 105974 | M | 215918 |
- | Japanese | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:I.1(W.I.1 (54))]; PMID:30048690 [Fam.2:I.1(P2.1)]; PMID:34111452 [W.I.1 (54)]; PMID:35087518 [Fam.15:I.1(15.1)] |
| 105976 | M | 215918 |
- | Japanese | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:II.1(W.II.1 (55))]; PMID:34111452 [W.II.1 (55)]; PMID:35087518 [Fam.15:II.1(15.2)] |
| 105977 | F | 215918 |
9 | Japanese | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:II.2(W.II.2 (56))]; PMID:30048690 [Fam.2:II.2(P2.2)]; PMID:34111452 [W.II.2 (56)]; PMID:35087518 [Fam.15:II.2(15.3)] |
| 105978 | F | 215918 |
- | Japanese | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:II.3(W.II.3 (57))]; PMID:30048690 [Fam.2:II.3(P2.3)]; PMID:34111452 [W.II.3 (57)]; PMID:35087518 [Fam.15:II.3(15.4)] |
| 105981 | M | 215919 |
- | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Y:II.1(Y.II.1 (61))]; PMID:34111452 [Y.II.1 (61)]; PMID:39218359 [8] |
| 105986 | F | 215921 |
- | Lymphadenopathy | NFKB1 insufficiency | PMID:150198 [Fam.FG:II.2(630)]; PMID:36203612 [Fam.1:II.2(1.II.1)] | |
| 106000 | M | 215922 |
20 | Lymphadenopathy | NFKB1 insufficiency | PMID:150198 [Fam.FH:III.2(641)]; PMID:36203612 [Fam.2:III.2(2.III.2)] | |
| 106023 | M | 215923 |
- | Japanese | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.AA:IV.1(AA.IV.1 (69))]; PMID:30048690 [Fam.4:IV.1(P4.2)]; PMID:34111452 [AA.IV.1 (69)]; PMID:35087518 [Fam.16:IV.1(16.2)] |
| 106036 | F | 215924 | - | Japanese | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [CC.II.1 (73)]; PMID:30048690 [Fam.5:II.1(P5.1)]; PMID:34111452 [AC.II.1 (73)]; PMID:35087518 [18.1] |
| 106041 | M | 215926 | - | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [EE.II.1 (76)]; PMID:34111452 [AE.II.1 (76)] |
| 106042 | M | 215927 | 22 | North American | Generalized lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [FF.II.1]; PMID:29729943 [FF.II.1 (77)]; PMID:34111452 [AF.II.1 (77)] |
| 106044 | F | 215929 |
- | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.KK:II.1(KK.II.1 (85))]; PMID:34111452 [AK.II.1 (85)]; PMID:37740092 [P14] |
| 106047 | F | 215930 | - | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [LL.II.1 (86)]; PMID:34111452 [AL.II.1 (86)]; PMID:39218359 [13] |
| 106057 | F | 210991 |
- | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.8(NN.II.6 (90))]; PMID:34111452 [AN.II.6 (90)] |
| 106070 | F | 215933 | - | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [SS.II.1 (99)]; PMID:34111452 [AS.II.1 (99)]; PMID:30087679 [S6] |
| 106090 | M | 215946 |
0 | Saudi | Lymphadenopathy | T-cell immunodeficiency with thymic aplasia | PMID:33464451 [P11]; PMID:37419334 [P11(27)]; PMID:31151968 [Fam.1:II.2(Patient)] |
| 106094 | M | 215947 |
- | Saudi | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.VV:II.1(VV.II.1 (124))]; PMID:34111452 [AV.II.1 (124)] |
| 106097 | M | 215948 | - | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [WW.II.1 (125)]; PMID:34111452 [AW.II.1 (125)]; PMID:39218359 [9] |
| 106099 | M | 210955 |
- | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.ZZ:II.1(ZZ.II.1 (129))]; PMID:34111452 [AZ.II.1 (129)] |
| 106145 | M | 215954 | - | Slovak | Generalized lymphadenopathy | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:33464451 [P9]; PMID:37419334 [P9(27)] |
| 106172 | F | 215971 | - | German | Lymphadenopathy | NFKB1 insufficiency | PMID:150198 [Fam.FI:660]; GRID:001142 [FR302] |
| 106246 | F | 215977 |
- | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.11(UU.III.7 (111))]; PMID:29305966 [Fam.1:III.2(III.2)]; PMID:34111452 [AU.III.7 (111)] |
| 106259 | F | 215977 |
- | Caucasian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.2(UU.III.2 (107))]; PMID:29305966 [Fam.1:III.12(III.4)]; PMID:34111452 [AU.III.2 (107)] |
| 106282 | M | 215979 |
28 | Caucasian | Generalized lymphadenopathy | NFKB1 insufficiency | PMID:150198 [Fam.FZ:III.1(792)]; PMID:38593810 [Fam.6:II.1(F6.II-1)] |
| 106347 | M | 215994 | 28 | Lymphadenopathy | NFKB1 insufficiency | PMID:150198 [Fam.EY:609]; PMID:36105815 [R198C] | |
| 106352 | M | 215998 |
- | Lymphadenopathy | Activated p110-d syndrome 2 | PMID:34922003 [Fam.B:II.1(B1)] | |
| 106358 | M | 216000 |
19 | Japanese | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:31993940 [Patient(II.1)] |
| 106371 | M | 216004 |
22 | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29375547 [Fam.A:II.1(A.II.1)] | |
| 106423 | F | 216015 |
- | Lymphadenopathy | NFKB1 insufficiency | PMID:150198 [Fam.FU:III.4(765)]; PMID:38130541 [Fam.1:III.4(P1)] | |
| 106445 | M | 216015 |
- | Generalized lymphadenopathy | NFKB1 insufficiency | PMID:150198 [Fam.FU:III.2(763)]; PMID:38130541 [Fam.1:III.2(P2)] | |
| 106472 | M | 216026 | - | Egyptian | Generalized lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:32506362 [P7(II.1)] |
| 106474 | M | 216027 | - | Egyptian | Generalized lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:32506362 [P9] |
| 106475 | M | 216028 | - | Egyptian | Generalized lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:32506362 [P10] |
| 106482 | F | 216035 | - | Egyptian | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:32506362 [P17] |
| 106495 | F | 216045 | 1 | Generalized lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:33178652 [Patient] | |
| 106520 | F | 216054 | - | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34111452 [BJ.II.1 (147)] | |
| 106536 | F | 216068 |
24 | Turkish | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34111452 [CE.II.1 (164)]; PMID:37595759 [Fam.F2:II.1(CM3)]; PMID:35491430 [Fam.F2:II.1(CM3)]; PMID:28601686 [P7(II.1)] |
| 106555 | M | 216078 |
- | Caucasian | Lymphadenopathy | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.A:II.1(P1)]; PMID:25075845 [Fam.1:II.2(Young-bro)] |
| 106562 | M | 216079 |
- | Caucasian | Lymphadenopathy | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.B:IV.1(P3)] |
| 106592 | M | 216085 |
15 | Generalized lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34116213 [Fam.A:II.1(P1)] | |
| 106636 | F | 216095 | - | Iranian | Lymphadenopathy | Activated p110-d syndrome 2 | PMID:31117086 [P34] |
| 106637 | M | 216096 |
- | Danish | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:32047491 [P3(II.1)] |
| 106675 | M | 216105 | 18 | Egyptian | Generalized lymphadenopathy | NFKB1 insufficiency | PMID:150198 [Fam.EH:585]; PMID:35482138 [Fam.139:158] |
| 106700 | F | 216113 |
28 | Japanese | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35087518 [22.1]; PMID:34707038 [Patient(II.1)] |
| 106787 | M | 216138 | - | Generalized lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.278] | |
| 106789 | M | 216140 | - | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.282] | |
| 106790 | M | 216141 |
- | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.265] | |
| 106792 | F | 216141 |
- | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34619682 [P.227] | |
| 106797 | F | 216148 | 50 | German | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37740092 [P06] |
| 106816 | F | 216162 | - | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:39184709 [Fam.1:II.1(Patient)] | |
| 106832 | M | 216164 | 13 | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:30479033 [Patient] | |
| 106839 | M | 216166 | 8 | Iraqi | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:34795304 [Fam.1:II.1(Case 1)] |
| 106932 | M | 216188 |
5 | Jewish | Generalized lymphadenopathy | Adenosine deaminase 2 deficiency | PMID:25075848 [patient]; PMID:30139808 [Fam.1:II.5(P)] |
| 106959 | M | 216200 | - | Generalized lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P17]; PMID:35677041 [Pt9] | |
| 107043 | M | 216282 | - | Lymphadenopathy | Activated p110-delta syndrome 1 | PMID:27444043 [P1] | |
| 107046 | M | 216285 | 3 | Lymphadenopathy | Activated p110-delta syndrome 1 | PMID:28428270 [P2] | |
| 107047 | F | 216286 | 8 | Lymphadenopathy | Activated p110-delta syndrome 1 | PMID:28428270 [P3] | |
| 107110 | M | 216339 |
4 | Indian | Lymphadenopathy | Autoinflammation with episodic fever and immune dysregulation | PMID:38609546 [P1(IV.2)] |
| 107118 | F | 216340 |
0 | Iranian | Lymphadenopathy | Autoinflammation with episodic fever and immune dysregulation | PMID:38609546 [P2(II.2)] |
| 107138 | M | 216357 | - | Lymphadenopathy | Activated p110-delta syndrome 1 | PMID:28469999 [Patient(II.1)] | |
| 107150 | F | 216363 |
0 | Iranian | Lymphadenopathy | Severe congenital neutropenia 6 | PMID:37120535 [Fam.1:II.4(Patient 2)] |
| 107226 | M | 216382 | 3 | North American | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:35677041 [Pt6]; PMID:33651637 [Patient 2]; PMID:28349047 [Case] |
| 107242 | M | 216394 |
7 | Caucasian | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33651637 [Patient 3]; PMID:30809743 [Fam.2:II.2(Pt#3)] |
| 107245 | M | 216394 |
2 | Caucasian | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30809743 [Fam.2:II.1(Pt#2)] |
| 107246 | M | 216395 | 2 | Caucasian | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30809743 [Pt#1] |
| 107322 | M | 216439 | - | Chinese (China) | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:34291137 [Fam.B:II.1(P2)] |
| 107323 | M | 216440 | - | Lymphadenopathy | Hemophagocytic Lymphohistiocytosis, familial, 3 | PMID:31857261 [Patient 11] | |
| 107429 | M | 216166 | 3 | Iraqi | Generalized lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:34795304 [Fam.1:II.2(Case 2)] |
| 107447 | F | 216487 |
14 | Asian | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34824019 [Patient(II.1)] |
| 107475 | M | 216507 | - | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:33864888 [S175] | |
| 107487 | M | 216512 |
- | Turkish | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F1:I.1(CM1)]; PMID:35491430 [Fam.F1:I.1(CM1)] |
| 107488 | M | 216512 |
- | Turkish | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F1:II.1(CM2)]; PMID:35491430 [Fam.F1:II.1(CM2)] |
| 107491 | F | 216515 |
14 | Turkish | Generalized lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F5:II.1(CM7)]; PMID:35491430 [Fam.F5:II.1(CM7)] |
| 107493 | M | 216516 | 15 | Turkish | Generalized lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F6:CM9]; PMID:35491430 [Fam.F6:CM9] |
| 107496 | M | 216517 |
- | Turkish | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F7:II.1(CM11)]; PMID:35491430 [Fam.F7:II.1(CM11)] |
| 107497 | U | 216518 | - | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F8:CM13] | |
| 107500 | U | 216521 | - | Turkish | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F11:I.1(CM16)] |
| 107509 | U | 216528 | - | Turkish | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F15:II.2(CM22)] |
| 107511 | U | 216528 | - | Turkish | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F15:II.1(CM24)] |
| 107512 | U | 216529 | - | Turkish | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F16:I.1(CM25)] |
| 107513 | U | 216529 | - | Turkish | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.?:CM26] |
| 107514 | U | 216530 | - | Turkish | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F17:CM27] |
| 107518 | U | 216533 | - | Turkish | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F20:II.1(CM31)] |
| 107520 | U | 216534 | - | Turkish | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F21:II.1(CM33)] |
| 107521 | U | 216534 | - | Turkish | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:37595759 [Fam.F21:I.1(CM34)] |
| 107595 | F | 216587 | - | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:31857100 [P3] | |
| 107596 | F | 216588 | - | Lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:31857100 [P4] | |
| 107629 | M | 216591 | 1 | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:35490276 [Patient(II.3)] | |
| 107696 | M | 216603 | 36 | Georgian Jewish | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:36063261 [Patient 1] |
| 107711 | M | 216607 | - | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:36074705 [P1] | |
| 107715 | M | 216611 | - | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:36074705 [P5] | |
| 107717 | U | 216613 | - | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:36214981 [P5] | |
| 107721 | M | 216617 | - | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:36569874 [Patient] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).