Lymphadenopathy
Basic details
Preferred term: Lymphadenopathy
Alt. terms: adenopathy | Lymph node hyperplasia | Swollen lymph nodes | lymph node disease
HPO term: Lymphadenopathy
HPO code: HP:0002716
GenIA ID: 144
Last updated on: 2021-12-10 17:55:48
Cross ref. with other ontologies
NCIT: C50764
MESH: D000072281
EFO: -
OAE: -
SNOMEDCT: -
ICD10: R59
Description
Enlargement (swelling) of a lymph node. *Some inflamed lymph nodes can get enlarged (lymphadenopathy), but all the enlarged lymph nodes are not inflamed (lymphadenitis).
Hierarchical classification
TERM
Lymphadenopathy
CHILD terms
- Generalized lymphadenopathy
- Lymphadenitis
- Mediastinal lymphadenopathy
- Cervical lymphadenopathy
- Follicular hyperplasia
- Chronic noninfectious lymphadenopathy
- Submandibular lymph node enlargement
- Paratracheal lymphadenopathy
- Lymphangitis
- Enlarged mesenteric lymph node
- Axillary Lymphadenopathy
- Hilar lymph node enlargement
- Supraclavicular lymphadenopathy
- Inguinal lymphadenopathy
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101015 | M | 210203 | -,- | German | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.MM:II.1]; PMID:29729943 [Fam.MM:II.1(87)]; PMID:34975878 [Fam.F002:P002]; PMID:31857261 [Patient 3] |
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 | 24,24 | Lymphadenopathy,Mediastinal lymphadenopathy | PMID:34975878 [Fam.F011:P011] | ||
101037 | M | 210182![]() |
-,-,- | Caucasian | Abnormal lymphoproliferation,Generalized lymphadenopathy,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)] |
101038 | F | 210182![]() |
- | Caucasian | Abnormal lymphoproliferation | 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)] |
101040 | F | 210724![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.GG:II.1(79)]; PMID:31857261 [Patient 15] |
101043 | M | 210725![]() |
-,- | Caucasian | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.H:II.2(30)]; PMID:34975878 [Fam.F017:P017] |
101045 | M | 210205![]() |
22,- | Caucasian | Abnormal lymphoproliferation,Lymphadenopathy | 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)] |
101051 | F | 210205![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:III.5(A.III.1)]; PMID:30250467 [A.III.1]; PMID:29729943 [Fam.A:III.5(A.III.1 (8))]; PMID:34975878 [Fam.F018:III.1(P021)]; PMID:27418640 [P10(5)] |
101059 | M | 211386 | - | Lymphadenopathy | PMID:34975878 [Fam.F030:P030]; PMID:31057532 [Fam.F:II.1] | ||
101062 | M | 212603![]() |
3 | South Asian | Cervical lymphadenopathy | ARPC1B deficiency | PMID:28368018 [Fam.1:II.1(P1)]; PMID:30771411 [P9]; PMID:34673575 [Fam.1:II.1(P1)] |
101076 | F | 210226 | 9 | German | Lymphadenopathy | PMID:34975878 [Fam.F041:P041] | |
101077 | F | 210211 | -,22 | German | Abnormal lymphoproliferation,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 | Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34975878 [Fam.F056:P056]; PMID:37740092 [P13] | |
101091 | M | 210911 | -,22 | Abnormal lymphoproliferation,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] |
101116 | M | 210282![]() |
- | German | Abnormal lymphoproliferation | Immunodeficiency, common variable, 1 | PMID:12577056 [Fam.A:II.2(P2)]; PMID:16384931 [Fam.A:II.3(P2)]; PMID:19426217 [Fam.A:II.2(P2)]; PMID:28861081 [Fam.1:II.2(P2)]; PMID:35486341 [P005] |
101118 | F | 210735 | 35,- | Abnormal lymphoproliferation,Lymphadenopathy | Thrombophilia due to Factor V Leiden | PMID:31057532 [Fam.C:II.1] | |
101119 | M | 210264 | -,- | Abnormal lymphoproliferation,Lymphadenopathy | PMID:34975878 [Fam.F070:P070] | ||
101120 | M | 210221 | -,50,52 | German | Abnormal lymphoproliferation,Lymphadenitis,Lymphadenopathy | PMID:34975878 [Fam.F071:P071] | |
101122 | M | 210197![]() |
19,23 | Italian | Abnormal lymphoproliferation,Lymphadenopathy | NFKB1 insufficiency | PMID:34975878 [Fam.F073:P073]; PMID:150198 [Fam.DZ:II.2(548)] |
101123 | M | 210255 | -,8 | Abnormal lymphoproliferation,Lymphadenopathy | PMID:34975878 [Fam.F074:P074] | ||
101127 | F | 210318 | 35 | German | Generalized lymphadenopathy | PMID:34975878 [Fam.F077:P077] | |
101128 | M | 210897 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.OO:II.1(95)]; PMID:37740092 [P07] |
101129 | F | 210906 | 42 | German | Lymphadenitis | PMID:34975878 [Fam.F078:P078] | |
101131 | F | 210337 | 56 | German | Generalized lymphadenopathy | PMID:34975878 [Fam.F080:P080] | |
101147 | F | 211145 | - | Lymphadenopathy | PMID:34975878 [Fam.F090:P090] | ||
101150 | F | 210736 | 7,7 | Abnormal lymphoproliferation,Generalized lymphadenopathy | Immunodeficiency, common variable, 2 | PMID:34975878 [Fam.F093:P093] | |
101151 | M | 210938 | 50 | Mediastinal lymphadenopathy | PMID:34975878 [Fam.F094:P094] | ||
101154 | F | 210005 | - | Lymphadenopathy | PMID:34975878 [Fam.F097:P097] | ||
101155 | M | 210235 | -,- | German | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [JJ.II.I]; PMID:29729943 [Fam.JJ:II.1(83)]; PMID:34975878 [Fam.F098:P098] |
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 | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.YY:II.1(127)]; PMID:34975878 [Fam.F122:P122] |
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 | 10,10 | Lebanese | Lymphadenitis,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] |
101336 | M | 212152 | - | Omani | Abnormal lymphoproliferation | Immunodeficiency, common variable, 8 | PMID:28473463 [Fam.3 :II.1] |
101343 | M | 210134 | -,- | Italian | Follicular hyperplasia,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] |
101391 | F | 211018 | - | Mediastinal lymphadenopathy | PMID:34975878 [Fam.F137:P137] | ||
101392 | M | 212166 | 2 | Palestinian | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:25931386 [Fam.2:II.3(P4)]; PMID:26707784 [P23] |
101401 | F | 210205![]() |
- | Caucasian | Abnormal lymphoproliferation | 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 | 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] |
101425 | M | 210205![]() |
- | Caucasian | Abnormal lymphoproliferation | 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 | 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 | Abnormal lymphoproliferation,Lymphadenopathy | 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 | 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] |
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)] |
101578 | M | 210205![]() |
- | German | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.A:II.14(A.II.8)]; PMID:29729943 [Fam.A:II.14(A.II.8 (5))]; PMID:27418640 [P8(5)] |
101596 | M | 212618![]() |
1 | Jewish | Lymphadenitis | ARPC1B deficiency | PMID:29127144 [P1(II.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)] |
101613 | F | 210737 | 6,- | Abnormal lymphoproliferation,Cervical lymphadenopathy | PMID:34975878 [Fam.F210:P210] | ||
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] | ||
101667 | M | 212631![]() |
- | Moroccan | Lymphadenitis | ARPC1B deficiency | PMID:30771411 [P6(II.2)]; PMID:35767111 [P5] |
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 | Abnormal lymphoproliferation,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)] |
101720 | F | 210022 | - | Iranian | Follicular hyperplasia | Immunodeficiency, common variable, 8 | PMID:26768763 [Fam.134:II.2(P5)]; PMID:25539626 [P1(II.1)]; PMID:26707784 [P12] |
101722 | F | 210261![]() |
-,- | Asian | Abnormal lymphoproliferation,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)] |
101744 | F | 210182![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.B:III.2(B.III.2)]; PMID:29729943 [Fam.B:III.3(B.III.2 (17))]; PMID:27418640 [P15(5)] |
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 | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.11(NN.II.9(92))] |
101797 | M | 211108 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.QQ:II.1(97)]; PMID:34975878 [Fam.F258:P258] |
101798 | M | 211117 | - | Lymphadenopathy | Adenosine deaminase 2 deficiency | PMID:28493328 [P11] | |
101799 | M | 211120 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.XX:II.1]; PMID:29729943 [Fam.XX:II.1(126)] |
101800 | M | 215769![]() |
-,-,- | Caucasian | Abnormal lymphoproliferation,Cervical lymphadenopathy,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] | ||
101913 | M | 211925 | - | Mediastinal lymphadenopathy | PMID:34975878 [Fam.F340:P340] | ||
101915 | F | 211935 | 34 | 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] |
102121 | M | 214345 | - | Egyptian | Cervical lymphadenopathy | Hyper-IgE recurrent infection syndrome 2 | PMID:34390440 [HIES16] |
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 | -,- | Caucasian | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.R:II.5(45)] |
102175 | M | 210725![]() |
-,-,- | Caucasian | Abnormal lymphoproliferation,Generalized lymphadenopathy,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)] |
102180 | F | 214912 | - | Chinese (China) | Lymphadenopathy | Severe combined immunodeficiency 9A, T-B- | PMID:26476733 [P7] |
102222 | M | 214917 | -,43 | German | Cervical lymphadenopathy,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] |
102224 | F | 214919 | - | German | Abnormal lymphoproliferation | DiGeorge syndrome | PMID:35486341 [P017] |
102245 | M | 214924![]() |
- | Afghanistani | Lymphadenitis | ARPC1B deficiency | PMID:33679784 [Fam.II-6:II.1(II-1)] |
102260 | F | 214926![]() |
- | Mexican | Lymphadenitis | ARPC1B deficiency | PMID:32683750 [Fam.case:II.2(sister)]; PMID:36708766 [Fam.A:II.2(P1)] |
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![]() |
8,7 | European | Lymphadenitis,Lymphadenopathy | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.3:II.1(P3)] |
102637 | M | 214972![]() |
24 | Abnormal lymphoproliferation | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.4:II.2(P4)] | |
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![]() |
-,2 | Czech | Cervical lymphadenopathy,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)] |
102677 | M | 214980![]() |
- | Pakistani | Cervical lymphadenopathy | JAK1 deficiency | PMID:28008925 [Patient(II.4)] |
102731 | F | 214982![]() |
8,8 | Colombian | Follicular hyperplasia,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)] |
102881 | F | 215003![]() |
0 | Portuguese | Lymphadenitis | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:20978268 [Fam.1:II.1(P1)]; PMID:33464451 [P3]; PMID:28077132 [P7]; PMID:22590644 [Patient(II.1)] |
102901 | F | 215008![]() |
- | Brasilian | Lymphadenopathy | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:35064468 [patient(II.2)] |
102984 | F | 215074![]() |
9 | European/American | Mediastinal lymphadenopathy | Immunodeficiency 97 | PMID:31554793 [A.1(II.1)] |
103005 | M | 215081![]() |
- | North American | Cervical lymphadenopathy | ?Chronic infections and chronic pelvic pain | PMID:23861857 [Patient(II.1)] |
103076 | F | 215099![]() |
2 | Omani | Cervical lymphadenopathy | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.5(P6)] |
103288 | F | 215113![]() |
20,- | Hungarian | Follicular hyperplasia,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 | 45,44 | Cervical lymphadenopathy,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)] |
103542 | M | 215156![]() |
- | Mexican | Cervical lymphadenopathy | ARPC1B deficiency | PMID:36708766 [Fam.C:II.3(P5)] |
103788 | M | 215242![]() |
2 | South Korean | Lymphadenitis | Hyper-IgE recurrent infection syndrome 1 | PMID:19348930 [Patient(II.1)] |
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] | |
104001 | F | 215322![]() |
2 | North American | Mediastinal lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P5]; PMID:32392079 [P3]; PMID:30092289 [P15]; PMID:35677041 [Pt3]; PMID:33651637 [Patient 1] |
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![]() |
- | 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)] |
104540 | M | 215549![]() |
- | North African | Abnormal lymphoproliferation | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.F:II.1(Patient F)] |
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 | Lymphadenitis,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)] |
104639 | F | 215562 | 3 | Iraqi | Mediastinal lymphadenopathy | Immunodeficiency 91 and hyperinflammation | PMID:33872655 [Fam.A:II.2(P1.2)] |
104642 | F | 215562 | 1 | Iraqi | Lymphadenopathy | Immunodeficiency 91 and hyperinflammation | PMID:33872655 [Fam.A:II.1(P1.1)] |
104787 | M | 215573![]() |
- | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.A:I.1(A.I.1)]; PMID:27418640 [P1(4)] | |
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 | Abnormal lymphoproliferation,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)] | |
104838 | M | 215578![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.F:II.2(F.II.2)]; PMID:29729943 [Fam.F:F.II.1 (24)]; PMID:27418640 [P20(5)]; PMID:34619682 [P.56] |
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)] |
104847 | M | 215581 | 0 | Egyptian | Abnormal lymphoproliferation | Omenn syndrome 2 | PMID:30307608 [2] |
104850 | M | 215584 | 0 | Egyptian | Abnormal lymphoproliferation | Omenn syndrome 2 | PMID:30307608 [5] |
104851 | M | 215585 | 0 | Egyptian | Abnormal lymphoproliferation | Omenn syndrome 3 | PMID:30307608 [6] |
104858 | M | 215592 | 1 | Egyptian | Abnormal lymphoproliferation | Severe combined immunodeficiency 9B, T-B- | PMID:30307608 [11] |
104879 | F | 215606 | 0 | Egyptian | Abnormal lymphoproliferation | Severe combined immunodeficiency 9A, T-B- | PMID:30307608 [25] |
104886 | F | 215613![]() |
- | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.G:III.1(G.III.1 (26))]; PMID:25367873 [Fam.1:III.6(III.6)] |
104916 | M | 215613![]() |
-,- | Caucasian | Abnormal lymphoproliferation,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)] |
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)] |
105034 | F | 215628![]() |
21 | Finnish | Mediastinal lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25349174 [Fam.3:II.1(Patient 3)] |
105043 | F | 215630![]() |
-,- | Caucasian | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P9(II.1)]; PMID:29729943 [Fam.BBB:II.1(BBB.II.1 (131))] |
105046 | M | 215632![]() |
2,6 | Abnormal lymphoproliferation,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] | |
105057 | F | 215635![]() |
26,- | German | Abnormal lymphoproliferation,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![]() |
15,16 | 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![]() |
- | Lymphadenopathy | 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)] | |
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 | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.T:II.1(T.II.1 (48))]; PMID:27102614 [Fam.A:II.1(1)] |
105175 | M | 215660 | -,- | Caucasian | Abnormal lymphoproliferation,Lymphadenopathy | 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 | -,- | Caucasian | Abnormal lymphoproliferation,Lymphadenopathy | 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 | -,- | Caucasian | Abnormal lymphoproliferation,Lymphadenopathy | 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)] |
105179 | F | 215661 | -,- | Caucasian | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:I.2(L.I.2 (34))]; PMID:27102614 [Fam.C:I.2(mother)] |
105180 | M | 215662 | -,- | Caucasian | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.S:II.1(S.II.1 (47))]; PMID:27102614 [Fam.D:II.1(5)] |
105220 | F | 215666![]() |
-,15 | Finnish | Cervical lymphadenopathy,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: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)] |
105249 | M | 215676 | 3 | Turkish | Abnormal lymphoproliferation | Immunodeficiency, common variable, 8 | PMID:28956255 [Fam.P2:II.2] |
105272 | M | 215681 | - | Saudi | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:28134088 [P1(II.1)] |
105301 | M | 215686![]() |
-,- | European | Cervical lymphadenopathy,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![]() |
7,7 | European | Abnormal lymphoproliferation,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] |
105336 | M | 215698 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.AAA:II.1(AAA.II.1 (130))]; PMID:27908448 [Patient(I.1)] |
105337 | U | 215699 | -,- | European | Lymphadenopathy,Mediastinal 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 | 4,4 | Follicular hyperplasia,Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:29804237 [P1] | |
105359 | F | 210314![]() |
- | German | Cervical lymphadenopathy | NFKB1 insufficiency | PMID:32278790 [Fam.BF:III.2(III.2)]; PMID:150198 [Fam.AO:III.1(166)]; GRID:001142 [Fam.#:III.1(FR113)] |
105363 | F | 215722 | -,- | Afro-American | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.X:II.1(X.II.1 (59))]; PMID:28366794 [Fam.A:II.1(P1)] |
105370 | F | 215725 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Z:III.1(Z.III.1 (67))]; PMID:27577878 [Fam.B:II.1(15.1)] |
105388 | M | 215739 | - | Abnormal lymphoproliferation | Immunodeficiency, common variable, 8 | PMID:31238161 [Fam.F1:P1] | |
105406 | M | 215757 | 3,3 | Lymphadenitis,Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:31876783 [Patient 1] | |
105410 | M | 215760 | - | Indian | Generalized lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:33713070 [Case1] |
105416 | F | 215764![]() |
- | Chinese (China) | Mediastinal lymphadenopathy | NFKB1 insufficiency | PMID:30363934 [case 3(I.2)]; PMID:150198 [Fam.BN:I.2(303)] |
105424 | M | 215766![]() |
-,1 | Admixed | Abnormal lymphoproliferation,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 | Abnormal lymphoproliferation,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)] |
105482 | F | 215778![]() |
- | Caucasian | Cervical lymphadenopathy | Activated p110-delta syndrome 1 | PMID:24165795 [Fam.B:I.2(I.2)] |
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)] |
105533 | M | 215791 | - | Portuguese | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29225858 [Patient(I.1)] |
105537 | M | 215793 | - | Lymphadenopathy | Activated p110-delta syndrome 1 | PMID:24698326 [P1] | |
105546 | M | 215800![]() |
-,- | Caucasian | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29867916 [N211(II.1)]; PMID:29729943 [Fam.O:II.1(O.II.1 (42))] |
105549 | F | 215801 | 11,11 | Caucasian | Follicular hyperplasia,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29200144 [Fam.A: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![]() |
16,3 | Spanish | Abnormal lymphoproliferation,Lymphadenopathy | 4q24 deletion syndrome | PMID:29867916 [N227(II.1)]; PMID:150198 [Fam.BK:I.2(291)]; PMID:35784294 [case(II.1)] |
105586 | M | 215819 | 9 | Cervical lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:33717114 [Patient] | |
105591 | F | 215821 | - | Caucasian | Lymphadenitis | Activated p110-delta syndrome 1 | PMID:24610295 [Fam.2:II.1(F2P2)] |
105627 | F | 215822 | - | Caucasian | Cervical lymphadenopathy | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:III.2(P4)] |
105628 | F | 215822 | 2 | Caucasian | Cervical lymphadenopathy | Activated p110-delta syndrome 1 | PMID:25352054 [Fam.1:III.3(P5)] |
105635 | F | 215829 | 9,- | Caucasian | Abnormal lymphoproliferation,Cervical lymphadenopathy | Activated p110-delta syndrome 1 | PMID:26371693 [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 | -,16 | North American | Abnormal lymphoproliferation,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 | -,63 | German | Abnormal lymphoproliferation,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![]() |
11,9 | 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 | 0,2 | Polish | Follicular hyperplasia,Lymphadenopathy | Activated p110-delta syndrome 1 | PMID:26437962 [Fam.2 Sporadic pati:2 Sporadic patient 2] |
105859 | F | 215894![]() |
46,46 | British | Abnormal lymphoproliferation,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![]() |
4,4 | North American | Abnormal lymphoproliferation,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)] |
105907 | M | 215904 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.J:II.1(J.II.1 (32))] |
105910 | F | 215905 | 45,-,- | Caucasian | Abnormal lymphoproliferation,Generalized lymphadenopathy,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [K.II.1]; PMID:29729943 [Fam.K:II.1(K.II.1 (33))] |
105926 | M | 215909 | -,- | Japanese | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.N:III.2(N.III.2 (41))]; PMID:35087518 [Fam.12:III.2(12.4)] |
105957 | M | 215914 | -,- | Caucasian | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.P:II.2(P.II.2 (43))] |
105973 | F | 215917 | -,- | Japanese | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.V:II.1(V.II.1 (53))]; PMID:35087518 [14.1] |
105974 | M | 215918 | -,- | Japanese | Abnormal lymphoproliferation,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:35087518 [Fam.15:I.1(15.1)] |
105976 | M | 215918 | -,- | Japanese | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.W:II.1(W.II.1 (55))]; PMID:35087518 [Fam.15:II.1(15.2)] |
105977 | F | 215918 | -,9,- | Japanese | Abnormal lymphoproliferation,Follicular hyperplasia,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:35087518 [Fam.15:II.2(15.3)] |
105978 | F | 215918 | -,- | Japanese | Abnormal lymphoproliferation,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:35087518 [Fam.15:II.3(15.4)] |
105981 | M | 215919 | -,- | Caucasian | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.Y:II.1(Y.II.1 (61))] |
105985 | F | 215920 | - | Japanese | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.BB:II.2(BB.II.2 (72))]; PMID:30048690 [Fam.6:II.2(P6.2)]; PMID:35087518 [Fam.17:II.2(17.3)] |
105986 | F | 215921![]() |
-,47 | Abnormal lymphoproliferation,Lymphadenopathy | NFKB1 insufficiency | PMID:150198 [Fam.FG:II.2(630)]; PMID:36203612 [Fam.1:II.2(1.II.1)] | |
106000 | M | 215922![]() |
-,20,20 | Abnormal lymphoproliferation,Cervical lymphadenopathy,Lymphadenopathy | NFKB1 insufficiency | PMID:150198 [Fam.FH:III.2(641)]; PMID:36203612 [Fam.2:III.2(2.III.2)] | |
106023 | M | 215923 | -,- | Japanese | Abnormal lymphoproliferation,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:35087518 [Fam.16:IV.1(16.2)] |
106036 | F | 215924 | -,- | Japanese | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.CC:II.1(CC.II.1 (73))]; PMID:30048690 [Fam.5:II.1(P5.1)]; PMID:35087518 [18.1] |
106041 | M | 215926 | -,- | Caucasian | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.EE:II.1(EE.II.1 (76))] |
106042 | M | 215927 | -,-,22 | North American | Abnormal lymphoproliferation,Generalized lymphadenopathy,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [FF.II.1]; PMID:29729943 [Fam.FF:II.1(FF.II.1 (77))] |
106044 | F | 215929 | -,- | Caucasian | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.KK:II.1(KK.II.1 (85))] |
106047 | F | 215930 | -,- | Caucasian | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))] |
106057 | F | 210991 | -,- | Caucasian | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.8(NN.II.6 (90))] |
106060 | F | 210991 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.NN:II.10(NN.II.8 (91))] |
106068 | M | 215931 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.PP:II.1(PP.II.1 (96))] |
106069 | F | 215932 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.RR:II.1(RR.II.1 (98))] |
106070 | F | 215933 | -,- | Caucasian | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.SS:II.1(SS.II.1 (99))] |
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 | -,- | Caucasian | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.VV:II.1(VV.II.1 (124))] |
106097 | M | 215948 | -,- | Caucasian | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.WW:II.1(WW.II.1 (125))] |
106099 | M | 210955 | -,- | Caucasian | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.ZZ:II.1(ZZ.II.1 (129))] |
106105 | M | 215950 | -,- | Caucasian | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.CCC:II.1(CCC.II.1 (132))] |
106109 | M | 215952![]() |
-,- | Iranian | Abnormal lymphoproliferation,Cervical lymphadenopathy | NFKB1 insufficiency | PMID:150198 [Fam.EG:III.4(584)]; PMID:35392793 [Fam.1:III.4(III-1(index))] |
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] |
106223 | M | 215976![]() |
44 | Finnish | Follicular hyperplasia | NFKB1 insufficiency | PMID:150198 [Fam.FN:II.1(710)]; PMID:36356849 [Fam.4:II.1(F4:II:1)]; PMID:38593810 [Fam.3:II.1(F3.II-1)] |
106246 | F | 215977 | -,- | Caucasian | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.11(UU.III.7 (111))]; PMID:29305966 [Fam.IV.2:III.2(III.2)] |
106251 | M | 215977 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.13(UU.III.9 (112))]; PMID:29305966 [Fam.IV.2:III.7(III.3)] |
106256 | F | 215977 | 50 | Caucasian | Lymphadenopathy | PMID:30250467 [UU.III.3]; PMID:29729943 [Fam.UU:III.4(UU.III.3 (108))]; PMID:29305966 [Fam.IV.2:III.9(III.11)] | |
106259 | F | 215977 | -,- | Caucasian | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:III.2(UU.III.2 (107))]; PMID:29305966 [Fam.IV.2:III.12(III.4)] |
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)] |
106313 | F | 215982 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P1] |
106314 | M | 215983 | - | Caucasian | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P2] |
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 | 19,19 | Follicular hyperplasia,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:31993940 [Patient(II.1)] | |
106363 | F | 216001![]() |
0 | Argentinian | Lymphadenitis | Immunodeficiency 117 | PMID:36736301 [Fam.A:II.1(P1)] |
106367 | F | 216003![]() |
0 | Turkish | Lymphadenitis | Immunodeficiency 117 | PMID:36736301 [Fam.B:II.1(P2)] |
106371 | M | 216004 | 22,22 | Abnormal lymphoproliferation,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29375547 [Fam.A:II.1(A.II.1)]; PMID:31396201 [P2(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] | |
106555 | M | 216078![]() |
-,- | Caucasian | Abnormal lymphoproliferation,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 | 15,15,16 | Abnormal lymphoproliferation,Lymphadenopathy,Mediastinal lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34116213 [Fam.A:II.1(P1)] | |
106636 | F | 216095 | -,- | Iranian | Abnormal lymphoproliferation,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)] |
106653 | F | 216100 | 0 | Chinese (China) | Mediastinal lymphadenopathy | T-negative/B-positive SCID type 1 | PMID:36466884 [Pt1(II.2)] |
106668 | M | 216102 | 24 | Cervical lymphadenopathy | NFKB1 insufficiency | PMID:150198 [Fam.ED:564]; PMID:35281075 [4] | |
106675 | M | 216105 | 18 | Egyptian | Generalized lymphadenopathy | NFKB1 insufficiency | PMID:150198 [Fam.EH:585]; PMID:35482138 [Fam.139:158] |
106697 | F | 216110 | - | Japanese | Abnormal lymphoproliferation | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30048690 [Fam.7:7.1]; PMID:35087518 [Fam.20:20.1] |
106700 | F | 216113 | 30,28 | Japanese | Cervical lymphadenopathy,Lymphadenopathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:35087518 [Fam.22:22.1]; 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] | |
106812 | F | 216158 | 15 | Abnormal lymphoproliferation | Immunodeficiency, common variable, 14 | PMID:39059757 [P4] | |
106816 | F | 216162 | -,- | Cervical lymphadenopathy,Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:39184709 [Fam.1:II.1(Patient)] | |
106819 | M | 216163![]() |
- | Chinese (China) | Abnormal lymphoproliferation | Immunodeficiency, common variable, 1 | PMID:36571238 [Fam.2:II.2(II:2[P3])] |
106832 | M | 216164 | 13 | Lymphadenopathy | Immunodeficiency, common variable, 8 | PMID:30479033 [Patient] | |
106912 | F | 216186 | 49 | Abnormal lymphoproliferation | Immunodeficiency, common variable, 8 | PMID:39289195 [Patient(II.2)] | |
106932 | M | 216188![]() |
5 | Jewish | Generalized lymphadenopathy | Adenosine deaminase 2 deficiency | PMID:25075848 [patient]; PMID:30139808 [Fam.1:II.5(P)] |
106956 | M | 216197 | - | Abnormal lymphoproliferation | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P12] | |
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] | |
107095 | M | 216331 | 1 | Japanese | Cervical lymphadenopathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [P2] |
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 | Cervical lymphadenopathy,Lymphadenopathy | Severe congenital neutropenia 6 | PMID:37120535 [Fam.1:I.4(P2)] |
107226 | M | 216382 | 3,13 | North American | Lymphadenopathy,Mediastinal 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] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).