Diarrhea

Basic details

Preferred term: Diarrhea
Alt. terms: Diarrhea, unspecified | Diarrhoea | Watery stool | diarrheas | running stool | watery diarrhea

HPO term: Diarrhea
HPO code: HP:0002014

GenIA ID: 5
Last updated on: 2024-04-25 14:48:58

Cross ref. with other ontologies

NCIT: C2987
MESH: D003967
EFO: -
OAE:0000616
SNOMEDCT: -
ICD10: -

Description

Abnormally increased frequency of loose or watery bowel movements. Feces have an increased liquidity or decreased consistency. Chronic diarrhea is defined as diarrhea that has persisted for over 4 weeks.

Hierarchical classification

Reported patients added to GenIA DB

SubjectID Sex Fam.ID Age* Population MatchedTerm Diagnosis Reference & Pub.codes
101015 M 210203 23,23 German Diarrhea,Enteropathy 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 41 German Diarrhea PMID:34975878 [Fam.F003:P003]
101020 F 210008tree icon 27 German Diarrhea 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]
101024 F 210927 -,37 Diarrhea,Enteropathy PMID:34975878 [Fam.F009:P009]
101025 M 210937 53,53 Diarrhea,Enteropathy PMID:34975878 [Fam.F010:P010]
101027 M 211035 50 Diarrhea PMID:34975878 [Fam.F012:P012]
101036 F 210182tree icon -,- Caucasian Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.B:II.2(B.II.1)]; PMID:29729943 [Fam.B:II.2(B.II.1 (13))]; PMID:34975878 [Fam.F014:III.2(P014)]; PMID:27418640 [P12(5)]; PMID:37740092 [P01]
101037 M 210182tree icon 50 Caucasian Enteropathy 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 210182tree icon -,34 Caucasian Diarrhea,Enteropathy 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 210724tree icon 21 Caucasian Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.GG:II.1(79)]; PMID:31857261 [Patient 15]
101044 F 210725tree icon -,- Caucasian Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.H:I.2(28)]
101045 M 210205tree icon 15,21 Caucasian Diarrhea,Enteropathy 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)]
101047 F 210205tree icon - Caucasian Diarrhea CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.A:II.5(A.II.3)]; PMID:29729943 [Fam.A:II.5(A.II.3 (3))]
101048 M 210205tree icon - Caucasian Diarrhea CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.A:II.18(A.II.10)]; PMID:29729943 [Fam.A:II.18(A.II.10 (7))]
101049 F 210205tree icon - Caucasian Diarrhea CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.A:III.15(A.III.5)]; PMID:29729943 [Fam.A:III.15(A.III.5 (10))]
101051 F 210205tree icon - Caucasian Enteropathy 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)]
101062 M 212603tree icon 0 South Asian Bloody diarrhea ARPC1B deficiency PMID:28368018 [Fam.1:II.1(P1)]; PMID:30771411 [P9]; PMID:34673575 [Fam.1:II.1(P1)]
101076 F 210226 37 German Diarrhea PMID:34975878 [Fam.F041:P041]
101077 F 210211 29 German Enteropathy PMID:34975878 [Fam.F043:P043]
101081 F 211315 46 Diarrhea PMID:34975878 [Fam.F047:P047]
101082 F 211226 50 Diarrhea Adenosine deaminase 2 deficiency PMID:34975878 [Fam.F048:P048]
101084 F 211225 - Diarrhea PMID:34975878 [Fam.F050:P050]
101088 M 211560 47 German Diarrhea PMID:34975878 [Fam.F054:P054]
101093 M 211289 56 German Diarrhea Immunodeficiency, common variable, 8 PMID:34975878 [Fam.F059:P059]; PMID:31857261 [Patient 4]
101095 M 210286 - Enteropathy PMID:34975878 [Fam.F060:P060]
101101 M 211414 - Diarrhea Immunodeficiency, common variable, 13 PMID:31057532 [Fam.G:II.1]
101115 F 210778 30 Caucasian Diarrhea NFKB1 insufficiency PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427]
101121 M 210784 47 German Diarrhea PMID:34975878 [Fam.F072:P072]
101122 M 210197tree icon - Italian Enteropathy NFKB1 insufficiency PMID:34975878 [Fam.F073:P073]; PMID:150198 [Fam.DZ:II.2(548)]
101123 M 210255 8 Diarrhea PMID:34975878 [Fam.F074:P074]
101127 F 210318 39 German Diarrhea PMID:34975878 [Fam.F077:P077]
101129 F 210906 36,36 German Diarrhea,Enteropathy PMID:34975878 [Fam.F078:P078]
101136 M 210356 - Diarrhea PMID:34975878 [Fam.F085:P085]
101138 F 211092 -,- Diarrhea,Enteropathy PMID:34975878 [Fam.F086:P086]
101155 M 210235 - German Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [JJ.II.I]; PMID:29729943 [Fam.JJ:II.1(83)]; PMID:34975878 [Fam.F098:P098]
101160 F 211433 - Enteropathy Infantile-Onset Multisystem Autoimmune Disease 1 PMID:34975878 [Fam.F101:P101]
101164 F 211460 - German Enteropathy PMID:34975878 [Fam.F105:P105]
101175 F 212109tree icon 0 Turkish Diarrhea PMID:31057532 [Fam.I:II.1]
101176 F 212109tree icon 0 Turkish Diarrhea PMID:31057532 [Fam.I:II.2]
101195 F 212379 - Egyptian Diarrhea Hyper-IgE recurrent infection syndrome 2 PMID:34390440 [HIES19]
101197 F 214344 - Egyptian Diarrhea Hyper-IgE recurrent infection syndrome 2 PMID:34390440 [HIES18]
101199 F 211483 - German Diarrhea CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.YY:II.1(127)]; PMID:34975878 [Fam.F122:P122]
101203 M 211488 36 Enteropathy Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F125:P125]
101206 F 211500 - Enteropathy PMID:34975878 [Fam.F129:P129]
101227 M 210016 2 Austrian Diarrhea Immunodeficiency, common variable, 1 PMID:15507387 [Fam.D:II.4(II.4)]; PMID:16384931 [Fam.D:II.4(P9)]; PMID:19426217 [Fam.D:II.4(P9)]; PMID:28861081 [Fam.4:II.4(P9)]
101268 F 212145 - Iranian Diarrhea Immunodeficiency, common variable, 8 PMID:22608502 [Fam.D:II.2(P5)]; PMID:29528757 [Case 8]; PMID:26707784 [P5]; PMID:28512785 [P16]
101269 M 212146 0 Saudi Diarrhea PMID:22721650 [Fam.VI:5:I.1]
101270 F 212146 8 Saudi Mucoid diarrhea PMID:22721650 [Fam.VI:5:I.2]
101286 F 212146 18 Saudi Diarrhea Immunodeficiency, common variable, 8 PMID:22721650 [Fam.VI:5:V.3]; PMID:25468195 [Fam.C:II.3(P4)]; PMID:26707784 [P8]
101287 F 212146 3 Saudi Diarrhea Immunodeficiency, common variable, 8 PMID:22721650 [Fam.VI:5:V.4]; PMID:25468195 [Fam.C:II.4(P5)]; PMID:26707784 [P9]
101288 F 212146 2 Saudi Diarrhea Immunodeficiency, common variable, 8 PMID:22721650 [Fam.VI:5:V.5]; PMID:25468195 [Fam.C:II.5(P6)]; PMID:26707784 [P10]
101292 F 212146 8 Saudi Mucoid diarrhea Immunodeficiency, common variable, 8 PMID:22721650 [Fam.VI:5:VI.2(VI:2)]; PMID:26707784 [P7]
101295 M 212146 0 Saudi Diarrhea Immunodeficiency, common variable, 8 PMID:22721650 [VI:5(VI.5)]; PMID:26707784 [P6]
101303 F 212147 1 Turkish Diarrhea Immunodeficiency, common variable, 8 PMID:25479458 [Index(II.1)]; PMID:26707784 [P14]
101309 M 212148 0 Saudi Diarrhea Immunodeficiency, common variable, 8 PMID:25468195 [Fam.A:II.3(P1)]; PMID:26707784 [P15]
101324 M 212150 - Turkish Enteropathy PMID:28473463 [Fam.1:II.3]
101328 M 212151 - Moroccan Enteropathy Immunodeficiency, common variable, 8 PMID:28473463 [Fam.2:II.1(2.2)]
101333 M 212151 - Moroccan Enteropathy Immunodeficiency, common variable, 8 PMID:28473463 [Fam.2:II.5(2.1)]
101341 F 212153 - Omani Enteropathy Immunodeficiency, common variable, 8 PMID:28473463 [Fam.4 :II.1]
101343 M 210134 16 Italian Diarrhea Immunodeficiency, common variable, 8 PMID:22608502 [Fam.B:II.2(P3)]; PMID:26707784 [P3]
101351 M 212155 - Egyptian Diarrhea Immunodeficiency, common variable, 8 PMID:28473463 [Fam.6:II.3]
101363 M 212158 - Pakistani Diarrhea Immunodeficiency, common variable, 8 PMID:28473463 [Fam.9:II.1]
101369 M 212161 1 Turkish Diarrhea Immunodeficiency, common variable, 8 PMID:30479781 [P1(V.1)]
101375 F 212162 3 Iranian Diarrhea 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]
101379 M 212163 - Iranian Diarrhea Immunodeficiency, common variable, 8 PMID:29461210 [Fam.2:II.2(P3)]; PMID:26707784 [Fam.C:IV.4(P25)]; PMID:26993986 [F4]; PMID:28512785 [P10]
101386 F 212164 - Pakistani Diarrhea Immunodeficiency, common variable, 8 PMID:22981790 [P1(II.1)]; PMID:26707784 [P11]
101395 M 212167 1 Egyptian Diarrhea Immunodeficiency, common variable, 8 PMID:27683652 [P1(II.1)]
101401 F 210205tree icon - Caucasian Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.A:II.17(A.II.9)]; PMID:29729943 [Fam.A:II.17(A.II.9 (6))]; PMID:27418640 [P9(5)]
101403 M 210189tree icon - German Diarrhea Adenosine deaminase 2 deficiency PMID:28493328 [P3]; PMID:26922074 [Index(II.2)]
101410 F 210902 - German Enteropathy Adenosine deaminase 2 deficiency PMID:34975878 [Fam.F141:P141]; PMID:28493328 [P4]
101416 M 212169 7 Turkish Diarrhea Immunodeficiency, common variable, 8 PMID:27146671 [Patient(II.1)]
101421 F 212170 8 Iranian Diarrhea Immunodeficiency, common variable, 8 PMID:26707784 [Fam.B:IV.1(P24)]; PMID:26993986 [F5]; PMID:28512785 [P15]
101424 M 212172 13 Iranian Diarrhea Immunodeficiency, common variable, 8 PMID:29528757 [Case 6]; PMID:26707784 [Fam.D:IV.1(P27)]; PMID:26993986 [F8]; PMID:28512785 [P13]
101425 M 210205tree icon 44,- Caucasian Diarrhea,Enteropathy 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 - Iranian Diarrhea 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]
101443 M 212175 - North American Diarrhea Immunodeficiency, common variable, 8 PMID:26206937 [P7]
101446 M 212176 1 North American Diarrhea Immunodeficiency, common variable, 8 PMID:26206937 [P9]
101452 M 212394 -,- Iranian Diarrhea,Enteropathy Immunodeficiency, common variable, 8 PMID:29528757 [Case 1]; PMID:28512785 [Fam.3:P3]; PMID:31117086 [P33]
101458 F 210656tree icon 18,- Georgian Diarrhea,Enteropathy 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 Diarrhea 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]
101469 F 210220tree icon - German Diarrhea 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)]
101473 F 212398 5 Spanish Enteropathy Immunodeficiency, common variable, 8 PMID:30386343 [Patient(II.1)]
101479 F 210314tree icon - German Enteropathy 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)]
101488 M 210401tree icon - German Diarrhea NFKB1 insufficiency PMID:34975878 [Fam.F163:P163]; PMID:32278790 [CG.I.1]; PMID:150198 [Fam.BW:II.1(350)]; PMID:31857261 [Patient 16]
101495 M 212458 - Taiwanese Diarrhea Activated p110-delta syndrome 1 PMID:16984281 [P3(II.1)]
101507 M 210508 - German Enteropathy PMID:34975878 [Fam.F171:P171]
101514 M 210220tree icon -,- German Diarrhea,Enteropathy NFKB1 insufficiency PMID:32278790 [Fam.089:I.1(I.1)]; PMID:26279205 [Fam.089:I.1(I1)]; PMID:29403474 [Fam.089 (5):I.1(I1)]; PMID:150198 [Fam.AB:III.3(093)]; PMID:27461466 [Fam.089:I.1(24)]
101519 F 210437 - German Enteropathy PMID:34975878 [Fam.F172:P172]
101524 F 210020tree icon - German Enteropathy Immunodeficiency, common variable, 8 PMID:26768763 [Fam.105:II.1(P1)]; PMID:34975878 [Fam.F173:P173]
101571 F 211165 - German Enteropathy PMID:34975878 [Fam.F194:P194]
101573 F 210707 4 Diarrhea Infantile-Onset Multisystem Autoimmune Disease 1 PMID:34975878 [Fam.F196:P196]
101578 M 210205tree icon -,30 German Diarrhea,Enteropathy 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)]
101588 M 210935 - Diarrhea Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F206:P206]
101592 M 212605tree icon 4 Moroccan Bloody diarrhea ARPC1B deficiency PMID:27965109 [P1(II.1)]; PMID:30771411 [P1]; PMID:31710310 [Patient]; PMID:32499645 [Case 1]; PMID:34135903 [Patient]
101601 M 212619tree icon - Italian Bloody diarrhea ARPC1B deficiency PMID:30254128 [Fam.A:II.1(P1)]; PMID:30771411 [P2]; PMID:35967303 [Pt2]; PMID:35767111 [P2]
101611 M 212622tree icon - Colombian Bloody diarrhea ARPC1B deficiency PMID:30254128 [Fam.D:II.4(P4)]
101617 M 210994 52 Diarrhea Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F212:P212]
101622 F 212623tree icon - Moroccan Bloody diarrhea ARPC1B deficiency PMID:30254128 [Fam.E:II.1(P5)]
101628 F 210955 17 Caucasian Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.ZZ:I.2(128)]; PMID:34975878 [Fam.F217:P217]
101630 M 211089tree icon - German Diarrhea Immunodeficiency, common variable, 2 | NFKB1 insufficiency PMID:34975878 [Fam.F219:P219]; PMID:34975878 [Fam.F219:P219]; PMID:32278790 [BR.I.1]; PMID:32278790 [BR.I.1]; PMID:150198 [Fam.DC:II.2(453)]; PMID:150198 [Fam.DC:II.2(453)]; PMID:36105815 [Fam.R214Q:II.2(R214Q/1)]; PMID:36105815 [Fam.R214Q:II.2(R214Q/1)]
101631 F 212624tree icon - Turkish Bloody diarrhea ARPC1B deficiency PMID:30254128 [Fam.F:II.1(P6)]
101635 F 211154 - German Diarrhea Severe combined immunodeficiency due to adenosine deaminase deficiency PMID:34975878 [Fam.F221:P221]
101639 F 210928 - Enteropathy PMID:34975878 [Fam.F222:P222]
101656 F 211483 - German Enteropathy PMID:34975878 [Fam.F227:P227]
101687 F 212635tree icon 0 Nepalese Bloody diarrhea ARPC1B deficiency PMID:30771411 [P12(II.1)]
101693 M 212637tree icon 1 Nepalese Diarrhea ARPC1B deficiency PMID:30771411 [P14(II.1)]
101712 M 212643 - Jordanian Diarrhea Agammaglobulinemia 4 PMID:25893637 [P1(II.6)]
101717 F 210260tree icon - Caucasian Enteropathy 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)]
101718 F 210260tree icon - Caucasian Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.C:II.4(C.II.4)]; PMID:29729943 [Fam.C:II.4(C.II.4 (20))]; PMID:27418640 [P17(5)]
101722 F 210261tree icon -,- Asian Diarrhea,Enteropathy 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)]
101726 M 210182tree icon - Caucasian Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.B:II.3(B.II.2)]; PMID:29729943 [Fam.B:II.3(B.II.2 (14))]
101753 M 210024 - Japanese Enteropathy Immunodeficiency, common variable, 8 PMID:26768763 [Fam.553:II.1(P10)]
101755 M 210025 7 North American Diarrhea Immunodeficiency, common variable, 8 PMID:26768763 [Fam.604:II.1(P12)]; PMID:26206937 [P1(II.1)]
101756 F 210025 2 North American Diarrhea Immunodeficiency, common variable, 8 PMID:26768763 [Fam.604:II.2(P13)]; PMID:26206937 [Fam.P1:II.2(P2)]
101759 F 210028 - North American Diarrhea Immunodeficiency, common variable, 8 PMID:26768763 [Fam.607:P16]; PMID:26206937 [P4]
101763 M 210030 3 North American Diarrhea Immunodeficiency, common variable, 8 PMID:26768763 [Fam.629:P18]; PMID:26206937 [P8]
101764 F 210031 - Dutch Enteropathy Immunodeficiency, common variable, 8 PMID:26768763 [Fam.656:P19]
101774 M 210908tree icon - Argentinian Enteropathy Adenosine deaminase 2 deficiency PMID:28493328 [P9(II.1)]
101778 M 210920 - Libyan Diarrhea Immunodeficiency, common variable, 8 PMID:26745254 [Fam.P1:II.3(P2)]
101789 M 210950tree icon 12 Swiss Enteropathy Adenosine deaminase 2 deficiency PMID:28493328 [Fam.P7:II.2(P8)]
101794 F 211030 - Italian Enteropathy Adenosine deaminase 2 deficiency PMID:28493328 [P5]
101797 M 211108 -,14 Caucasian Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.QQ:II.1(97)]; PMID:34975878 [Fam.F258:P258]
101799 M 211120 -,- Caucasian Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [Fam.XX:II.1]; PMID:29729943 [Fam.XX:II.1(126)]
101801 M 211151 - Diarrhea CTLA4 haploinsufficiency with autoimmune infiltration PMID:34975878 [Fam.F260:P260]; PMID:37740092 [P20]
101802 F 211221tree icon - German Diarrhea NFKB1 insufficiency PMID:33995346 [Fam.A:III.2(Pat2)]; PMID:150198 [Fam.DV:III.2(528)]; PMID:36105815 [Fam.Y350C:III.2(Y350C/2)]
101807 F 211431 - Diarrhea Infantile-Onset Multisystem Autoimmune Disease 1 PMID:34975878 [Fam.F264:P264]
101812 F 211521 - Diarrhea Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F271:P271]
101814 F 211527 - German Diarrhea NFKB1 insufficiency PMID:34975878 [Fam.F274:P274]; PMID:32278790 [AK.I.1]; PMID:150198 [Fam.CP:435]
101829 M 211577 - Enteropathy PMID:34975878 [Fam.F293:P293]
101833 M 210887 - Diarrhea Agammaglobulinemia, X-linked 1 PMID:34975878 [Fam.F295:P295]
101840 F 211591 -,- Diarrhea,Enteropathy Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F301:P301]
101849 F 211636 - Diarrhea Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F311:P311]
101854 M 211650 - Enteropathy PMID:34975878 [Fam.F316:P316]
101915 F 211935 -,- Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:34975878 [Fam.F341:P341]
101950 F 212045 - Enteropathy PMID:34975878 [Fam.F372:P372]
101951 M 212062 - Enteropathy PMID:34975878 [Fam.F375:P375]
102065 M 214285 - Egyptian Diarrhea Hyper-IgE recurrent infection syndrome 2 PMID:34390440 [HIES23]
102074 F 214294 - Egyptian Diarrhea Hyper-IgE recurrent infection syndrome 2 PMID:34390440 [HIES27]; PMID:32738296 [P2]
102076 M 214296 - Egyptian Diarrhea Hyper-IgE recurrent infection syndrome 2 PMID:34390440 [HIES24]
102084 M 214303 - Egyptian Diarrhea Hyper-IgE recurrent infection syndrome 2 PMID:34390440 [HIES02]
102116 M 212357 - Egyptian Diarrhea Hyper-IgE recurrent infection syndrome 2 PMID:34390440 [HIES05]
102119 M 214343 - Egyptian Diarrhea Hyper-IgE recurrent infection syndrome 2 PMID:34390440 [HIES15]
102120 M 214344 - Egyptian Diarrhea Hyper-IgE recurrent infection syndrome 2 PMID:34390440 [HIES21]
102141 F 214393tree icon - North American Diarrhea Immunodeficiency, common variable, 14 PMID:27016798 [Patient(III.1)]; PMID:37876937 [Fam.A:III.1(A.1)]
102143 M 214416 0 Slovenian Protracted diarrhea Immunodeficiency, common variable, 8 PMID:28720148 [Patient]
102174 M 210182tree icon - Caucasian Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:25329329 [Fam.B:I.1(B.I.1)]; PMID:29729943 [Fam.B:I.1(B.I.1 (12))]
102175 M 210725tree icon 10 Caucasian Protracted diarrhea CTLA4 haploinsufficiency with autoimmune infiltration PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)]
102222 M 214917 54,- German Diarrhea,Enteropathy NFKB1 insufficiency PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C]
102239 F 214923tree icon 0 Brasilian Bloody diarrhea ARPC1B deficiency GRID:000604 [case(II.2)]; PMID:37349293 [Fam.B:II.1(Patient)]
102260 F 214926tree icon 0 Mexican Diarrhea ARPC1B deficiency PMID:32683750 [Fam.case:II.2(sister)]; PMID:36708766 [Fam.A:II.2(P1)]
102262 F 214927tree icon 1 Japanese Diarrhea OAS1 immunodeficiency PMID:29455859 [Fam.C:II.1]; PMID:34145065 [P5(II.1)]; PMID:29185156 [P2]
102274 F 214929tree icon - German Bloody diarrhea OAS1 immunodeficiency PMID:34145065 [P1(II.2)]
102277 M 214930tree icon - North American Diarrhea OAS1 immunodeficiency PMID:34145065 [P2(II.1)]
102281 M 214931tree icon - North American Diarrhea OAS1 immunodeficiency PMID:34145065 [P3(II.2)]
102357 M 214937tree icon - German Diarrhea Otofaciocervical syndrome 2 PMID:32111619 [Fam.A:II.1(P1)]
102374 M 214944tree icon - Saudi Diarrhea Otofaciocervical syndrome 2 PMID:32111619 [Fam.C:V.I(P7)]
102396 F 214944tree icon - Saudi Diarrhea Otofaciocervical syndrome 2 PMID:32111619 [Fam.C:IV.4(P5)]
102397 F 214944tree icon - Saudi Diarrhea Otofaciocervical syndrome 2 PMID:32111619 [Fam.C:IV.5(P6)]
102398 F 214944tree icon - Saudi Diarrhea Otofaciocervical syndrome 2 PMID:32111619 [Fam.C:V.2(P4)]
102641 M 214973tree icon 16 European Enteropathy Immunodeficiency 98 with autoinflammation, somatic PMID:33512449 [Fam.5:II.2(P5)]
102649 M 214975tree icon - Czech Enteropathy Immunodeficiency 98 with autoinflammation PMID:34981838 [Fam.1:II.2(Patient B)]
102819 M 214995 0 Diarrhea Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency PMID:14523047 [Patient(II.1)]
102865 F 214996tree icon 0 Italian Bloody diarrhea ARPC1B deficiency | Hartnup disease PMID:35967303 [PtII-1(II.1)]; PMID:35967303 [PtII-1(II.1)]
102871 F 215001tree icon 0 Italian Diarrhea 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 215003tree icon - Portuguese Diarrhea 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)]
102887 F 215005tree icon 0 Lebanese Diarrhea T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:25173801 [Patient(II.1)]; PMID:33464451 [P5]; PMID:28077132 [P9]
102891 F 215006tree icon 0 Indian Diarrhea T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:28636882 [Patient(II.3)]; PMID:33464451 [P6]
102894 M 215006tree icon - Indian Diarrhea T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:28636882 [Fam.Patient:II.2]; PMID:33464451 [P7]
102897 M 215007tree icon 0 Turkish Diarrhea T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:30903456 [P1(II.1)]; PMID:33464451 [P12(II.1)]; PMID:37419334 [P12(27)]
102932 M 215033 - Diarrhea T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P21]; PMID:37419334 [P21(22)]
102934 F 215035tree icon - Caucasian Diarrhea T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P23]; PMID:33464451 [P14(III.1)]; PMID:37419334 [P23(22)]
102935 M 215035tree icon - Caucasian Diarrhea T-cell lymphopenia with or without nail dystrophy, AD PMID:31447097 [P24]; PMID:33464451 [Fam.P14:III.2(P15)]; PMID:37419334 [P15(27)]
102984 F 215074tree icon 16 European/American Diarrhea Immunodeficiency 97 PMID:31554793 [A.1(II.1)]
103067 F 215097tree icon - Finnish Diarrhea Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F3:II.3(P4)]
103281 F 215111tree icon 0 Chinese (China) Diarrhea Immunodeficiency 82 with systemic inflammation PMID:33782605 [Fam.1:II.2(P1)]
103285 F 215112tree icon 0 Ashkenazi Jewish Diarrhea Immunodeficiency 82 with systemic inflammation PMID:33782605 [Fam.2:II.1(P2)]
103286 M 215112tree icon - Ashkenazi Jewish Diarrhea Immunodeficiency 82 with systemic inflammation PMID:33782605 [Fam.2:I.1(P3)]
103288 F 215113tree icon 27 Hungarian Diarrhea Immunodeficiency 82 with systemic inflammation PMID:33782605 [Fam.3:II.1(P4)]
103292 F 215114 43 German Diarrhea Immunodeficiency 82 with systemic inflammation PMID:33782605 [P5]
103293 M 215115 47 Bloody diarrhea Immunodeficiency 82 with systemic inflammation PMID:33782605 [P6]
103478 M 215135tree icon - French Diarrhea Immunodeficiency 55 PMID:28414293 [Fam.B:II.1(P3)]
103485 F 215137tree icon - French Diarrhea Immunodeficiency 55 PMID:28414293 [Fam.D:II.1(P5)]
103538 F 215155tree icon 1 Mexican Diarrhea ARPC1B deficiency PMID:36708766 [Fam.B:II.2(P3)]
103745 M 215234tree icon - Georgian Jewish Diarrhea Adenosine deaminase 2 deficiency PMID:24552285 [Fam.C:II.3(C-II-3)]
103859 M 215263tree icon - Turkish Diarrhea Adenosine deaminase 2 deficiency PMID:24552284 [Fam.8:II.1(P9)]; PMID:26233953 [Fam.F4:P5]
103877 F 215266tree icon 1 Finnish Diarrhea Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25038750 [P2]; PMID:25349174 [Fam.2:II.2(Patient 2)]; PMID:35677041 [Pt2]
103880 F 215269tree icon 1 Finnish Diarrhea Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)]
104001 F 215322tree icon 1,- North American Diarrhea,Enteropathy Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P5]; PMID:32392079 [P3]; PMID:30092289 [P15]; PMID:35677041 [Pt3]; PMID:33651637 [Patient 1]
104002 F 215323tree icon - Enteropathy Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P6]
104003 F 215324 - Enteropathy Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [P7]
104009 M 215327tree icon - Enteropathy Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [Fam.2:II.1(P12)]
104011 M 215327tree icon - Enteropathy Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25359994 [Fam.2:I.2(P13)]
104268 M 215444tree icon 1 Ashkenazi Jewish Diarrhea Infantile-Onset Multisystem Autoimmune Disease 1 PMID:28153428 [Patient(II.2)]
104392 F 215520tree icon - French Diarrhea Systemic early-onset autoinflammation, vasculitis and hepatopathy PMID:36122175 [Patient]
104403 M 215524tree icon 1 Asian Diarrhea Early-onset atopic inflammation PMID:36216080 [Index(III.1)]
104406 M 215524tree icon 1 Asian Bloody diarrhea Early-onset atopic inflammation PMID:36216080 [Fam.Index:II.1(father)]
104410 M 215525tree icon 0 Japanese Diarrhea Early-onset atopic inflammation PMID:36538978 [Patient(II.2)]
104453 F 215530tree icon 15 European Diarrhea Early-onset atopic inflammation PMID:36884218 [Fam.D:II.1(P5)]
104465 M 215533tree icon 0 Diarrhea Early-onset atopic inflammation PMID:36884218 [Fam.G:II.1(P10)]
104519 F 215537 0 Gypsy Bloody diarrhea ARPC1B deficiency PMID:31379835 [P1]
104520 M 215537 0 Gypsy Bloody diarrhea ARPC1B deficiency PMID:31379835 [Fam.P1:II.2(P2)]
104521 F 215538 - Gypsy Bloody diarrhea ARPC1B deficiency PMID:31379835 [P3]
104535 M 215547tree icon 14 Reunionese Diarrhea X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.D:II.1(Patient D1)]
104538 M 215547tree icon 9 Reunionese Diarrhea X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.D:II.2(Patient D2)]
104540 M 215549tree icon 5 North African Diarrhea X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.F:II.1(Patient F)]
104554 M 215551tree icon - Pakistani Diarrhea 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)]
104568 F 215551tree icon 0 Pakistani Diarrhea Autoinflammation, panniculitis, and dermatosis syndrome PMID:27523608 [Fam.1:IV.3(IV:3)]; PMID:32231246 [IV:3(IV.3)]; PMID:27559085 [Fam.1:IV.1(P4)]; PMID:38914362 [Fam.A:V.6(027)]
104570 F 215551tree icon - Pakistani Bloody diarrhea Autoinflammation, panniculitis, and dermatosis syndrome PMID:27523608 [Fam.1:IV.4(IV:4)]; PMID:27559085 [Fam.1:IV.3(NA)]; PMID:38914362 [Fam.A:V.7(028)]
104583 F 215554tree icon 1 Arab Diarrhea Autoinflammation, panniculitis, and dermatosis syndrome PMID:30804083 [Patient(III.2)]; PMID:35587511 [Fam.K:II.2(4)]; PMID:38914362 [Fam.D:IV.2(049)]
104635 M 215561tree icon - Diarrhea X-linked multisystem autoinflammatory disease with immune dysregulation PMID:37342957 [Fam.D:II.1(P4)]
104685 F 215571tree icon - Iranian Diarrhea Severe early onset systemic inflammation and autoimmunity PMID:37382373 [Fam.1:VI.6(VI.5)]
104713 M 215571tree icon - Iranian Diarrhea Severe early onset systemic inflammation and autoimmunity PMID:37382373 [Fam.1:VI.5(VI.4)]
104739 F 215572tree icon - French Diarrhea Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [Fam.V-1:III.4]
104741 M 215572tree icon - French Diarrhea Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [Fam.V-1:III.6]
104748 F 215572tree icon - French Diarrhea Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [Fam.V-1:III.13]
104771 M 215572tree icon - French Diarrhea Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [Fam.V-1:IV.5]
104773 F 215572tree icon - French Diarrhea Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [Fam.V-1:IV.7]
104786 F 215573tree icon 22,2 Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.A:II.1(A.II.1)]; PMID:27418640 [P2(4)]
104787 M 215573tree icon -,40 Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.A:I.1(A.I.1)]; PMID:27418640 [P1(4)]
104791 M 215575tree icon 17,- Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.C:II.1(C.II.1)]; PMID:27418640 [P4(4)]
104796 M 215577tree icon 27,- Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.D:II.4(D.II.1)]; PMID:27418640 [P5(4)]
104797 M 215577tree icon - Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)]
104838 M 215578tree icon 23,20 Caucasian Diarrhea,Enteropathy 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 215579tree icon - European Diarrhea 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 Diarrhea Omenn syndrome 2 PMID:30307608 [2]
104849 F 215583 0 Egyptian Diarrhea Omenn syndrome 2 PMID:30307608 [4]
104850 M 215584 0 Egyptian Diarrhea Omenn syndrome 2 PMID:30307608 [5]
104851 M 215585 0 Egyptian Diarrhea Omenn syndrome 3 PMID:30307608 [6]
104857 M 215591 0 Egyptian Diarrhea Severe combined immunodeficiency 9B, T-B- PMID:30307608 [10]
104859 M 215593 0 Egyptian Diarrhea Severe combined immunodeficiency 9B, T-B- PMID:30307608 [12]
104860 F 215594 0 Egyptian Diarrhea Severe combined immunodeficiency 9B, T-B- PMID:30307608 [13]
104861 M 215595 0 Egyptian Diarrhea Severe combined immunodeficiency 9B, T-B- PMID:30307608 [14]
104862 F 215596 0 Egyptian Diarrhea Severe combined immunodeficiency 9B, T-B- PMID:30307608 [15]
104863 M 215597 0 Egyptian Diarrhea Severe combined immunodeficiency 9B, T-B- PMID:30307608 [16]
104864 F 215598tree icon - Diarrhea Immunodeficiency, common variable, 14 PMID:33864888 [S125]; PMID:37876937 [Fam.B:II.1(B.1)]
104871 M 215602 0 Egyptian Diarrhea Severe combined immunodeficiency 9A, T-B- PMID:30307608 [21]
104880 M 215607 - Egyptian Diarrhea Severe combined immunodeficiency 9A, T-B- PMID:30307608 [26]
104881 F 215608 - Egyptian Diarrhea Severe combined immunodeficiency 10A, T-B+ PMID:30307608 [27]
104882 F 215609 - Egyptian Diarrhea Severe combined immunodeficiency 10B, T-B+ PMID:30307608 [28]
104883 F 215610 - Egyptian Diarrhea Combined cellular and humoral immune defects with granulomas 1 PMID:30307608 [29]
104886 F 215613tree icon 13,- Caucasian Diarrhea,Enteropathy 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 215613tree icon - Caucasian Enteropathy 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)]
104942 F 215622tree icon - Dutch Diarrhea NFKB1 insufficiency PMID:32278790 [Fam.NA:III.18(III.18)]; PMID:26279205 [Fam.NL1:III.19(57)]; PMID:29403474 [Fam.NL1 (5):III.19(57)]; PMID:150198 [Fam.AA:III.19(045)]; PMID:35242131 [Fam.2:I.1(P2)]
104956 F 215622tree icon - Dutch Diarrhea NFKB1 insufficiency PMID:32278790 [Fam.NA:II.18(II.18)]; PMID:26279205 [Fam.NL1:II.22(19)]; PMID:29403474 [Fam.NL1 (5):II.22(19)]; PMID:11583829 [Fam.1:II.21(II:21)]; PMID:16639407 [Fam.1:II.22(19)]; PMID:150198 [Fam.AA:II.22(024)]
104994 F 215622tree icon - Dutch Enteropathy NFKB1 insufficiency PMID:32278790 [Fam.NA:IV.11(IV.10)]; PMID:26279205 [Fam.NL1:IV.13(62)]; PMID:29403474 [Fam.NL1 (5):IV.13(62)]; PMID:150198 [Fam.AA:IV.14(070)]; PMID:35242131 [Fam.2.:II.1(P9)]
105024 M 215625 - Enteropathy Infantile-Onset Multisystem Autoimmune Disease 1 PMID:32392079 [P4]
105025 F 215626tree icon - French Enteropathy Infantile-Onset Multisystem Autoimmune Disease 1 PMID:32392079 [P1]; PMID:29590538 [Patient]; PMID:35677041 [Pt8]
105028 F 215627 1,- French Diarrhea,Enteropathy Infantile-Onset Multisystem Autoimmune Disease 1 PMID:30299506 [Patient]; PMID:32392079 [P2]; PMID:35677041 [Pt10]
105034 F 215628tree icon 17 Finnish Diarrhea Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25349174 [Fam.3:II.1(Patient 3)]
105043 F 215630tree icon - Caucasian Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:27379089 [P9(II.1)]; PMID:29729943 [Fam.BBB:II.1(BBB.II.1 (131))]
105051 F 215634tree icon 34 Diarrhea Infantile-Onset Multisystem Autoimmune Disease 1 PMID:29180260 [Patient(II.1)]
105057 F 215635tree icon -,- German Bloody diarrhea,Diarrhea 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)]
105088 M 215638 -,- Japanese Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:26644313 [II.3(II.3)]; PMID:30250467 [M.II.3]; PMID:29729943 [Fam.M:II.3(M.II.3 (37))]; PMID:27418640 [P21(II.3)]; PMID:35087518 [11.1]
105093 F 215639tree icon - Israeli Diarrhea 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)]
105103 F 215641 0 South Korean Diarrhea CTLA4 haploinsufficiency with autoimmune infiltration PMID:26478010 [III.2(III.2)]
105112 F 215646 - Enteropathy NFKB1 insufficiency PMID:27379089 [P5]; PMID:32278790 [BM.I.5]; PMID:29403474 [Patient 5 (10)]; PMID:150198 [Fam.AJ:147]
105129 M 215647tree icon - Enteropathy 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)]
105143 F 215650 51,- German Diarrhea,Enteropathy NFKB1 insufficiency PMID:32278790 [X.I.1]; PMID:29403474 [Patient 7 (13)]; PMID:27923702 [Patient 7]; PMID:150198 [Fam.AP:168]; GRID:001142 [FR005]
105149 M 215654tree icon 18 Chinese (China) Diarrhea Immunodeficiency, common variable, 14 PMID:37350971 [Patient(II.1)]; PMID:37876937 [Fam.E:II.1(E.1)]
105151 M 215654tree icon - Chinese (China) Diarrhea PMID:37350971 [Fam.Patient:I.2]
105176 F 215661 - Caucasian Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.L:II.1(L.II.1 (35))]; PMID:27102614 [Fam.C:II.1(3)]
105177 M 215661 -,16 Caucasian Diarrhea,Enteropathy 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 Enteropathy 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 Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.S:II.1(S.II.1 (47))]; PMID:27102614 [Fam.D:II.1(5)]
105185 M 215663 7 Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:27102614 [Fam.E:III.1(6)]; PMID:30940614 [P7]
105187 F 215663 - Diarrhea PMID:27102614 [Fam.E:I.2(grandmother)]
105190 F 215664 1 Caucasian Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:27102614 [Fam.F:II.1(7)]
105203 F 215669 4 Turkish Diarrhea Immunodeficiency, common variable, 8 PMID:23733509 [P1(II.1)]
105212 F 215666tree icon 52 Finnish Diarrhea NFKB1 insufficiency PMID:32278790 [Fam.F1:II.4(II.4)]; PMID:29403474 [Fam.1 (9):II.4(F1.II-4)]; PMID:28115215 [Fam.1:II.4(F1.II-4)]; PMID:150198 [Fam.AQ:II.4(174)]; PMID:36356849 [Fam.6:II.4(F6:II:4)]; PMID:36105815 [Fam.H67R:II.4(H67R/2)]
105219 F 215666tree icon 16 Finnish Diarrhea NFKB1 insufficiency PMID:32278790 [Fam.F1:III.7(III.7)]; PMID:29403474 [Fam.1 (9):III.7(F1.III-7)]; PMID:28115215 [Fam.1:III.7(F1.III-7)]; PMID:150198 [Fam.AQ:III.7(181)]; PMID:36356849 [Fam.6:III.7(F6:III:7)]; PMID:36105815 [Fam.H67R:III.7(H67R/6)]
105220 F 215666tree icon 24 Finnish Diarrhea 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)]
105225 F 215671tree icon - Finnish Diarrhea NFKB1 insufficiency PMID:32278790 [Fam.F2:II.2(II.2)]; PMID:29403474 [Fam.2 (9):II.3(F2.II-3)]; PMID:28115215 [Fam.2:II.3(F2.II-3)]; PMID:150198 [Fam.AR:II.3(191)]; PMID:36356849 [Fam.5:II.2(F5:II:2)]
105241 M 215673 - Kuwaiti Diarrhea Immunodeficiency, common variable, 8 PMID:27760045 [P3(II.1)]
105247 F 215675 1 Turkish Diarrhea Immunodeficiency, common variable, 8 PMID:28956255 [P1(II.1)]
105248 F 215676 1 Turkish Diarrhea Immunodeficiency, common variable, 8 PMID:28956255 [P2(II.1)]
105249 M 215676 4,4 Turkish Enteropathy,Secretory diarrhea Immunodeficiency, common variable, 8 PMID:28956255 [Fam.P2:II.2]
105272 M 215681 1 Saudi Diarrhea Immunodeficiency, common variable, 8 PMID:28134088 [P1(II.1)]
105273 F 215682 18,18,- North American Bloody diarrhea,Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration GRID:000111 [Patient(I.1)]
105315 F 215690 -,- European Diarrhea,Enteropathy NFKB1 insufficiency PMID:32278790 [G.II.1]; PMID:29477724 [Fam.G:II.1(II:1)]; PMID:150198 [Fam.BA:266]; PMID:36105815 [I87S]
105316 U 215691 - European Diarrhea NFKB1 insufficiency PMID:32278790 [H.II.1]; PMID:29477724 [Fam.H:II.1(II:1)]; PMID:150198 [Fam.BB:267]
105317 M 215692tree icon -,- European Diarrhea,Intermittent diarrhea NFKB1 insufficiency PMID:32278790 [Fam.J:III.2(III.2)]; PMID:29477724 [Fam.J:III.2(III:2)]; PMID:150198 [Fam.BD:III.2(277)]
105332 U 215694 - European Diarrhea NFKB1 insufficiency PMID:32278790 [M.II.1]; PMID:29477724 [Fam.M:II.1(II:1)]; PMID:150198 [Fam.BG:285]
105334 F 215696 - Indian Diarrhea NFKB1 insufficiency PMID:32278790 [O.II.1]; PMID:29477724 [Fam.O:II.1(II:1)]; PMID:150198 [Fam.BI:287]
105335 U 215697 - European Diarrhea NFKB1 insufficiency PMID:32278790 [P.II.1]; PMID:29477724 [Fam.P:II.1(II:1)]; PMID:150198 [Fam.BJ:288]
105336 M 215698 -,39 Caucasian Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.AAA:II.1(AAA.II.1 (130))]; PMID:27908448 [Patient(I.1)]
105339 F 215701tree icon 0 Pakistani Diarrhea Immunodeficiency 87 PMID:31308374 [Fam.A:III.4(P1)]
105347 M 215709 0 Diarrhea Combined immunodeficiency with skin-hair depigmentation PMID:36917008 [P1(II.-)]
105348 M 215710 1 Diarrhea Combined immunodeficiency with skin-hair depigmentation PMID:29408330 [P1(II.-)]
105351 M 215713 1 Saudi Diarrhea Immunodeficiency, common variable, 8 PMID:28831385 [PD]
105353 F 215715 4 Turkish Diarrhea Immunodeficiency, common variable, 8 PMID:26686526 [P1]
105355 M 215717 0,- Caucasian Diarrhea,Enteropathy Immunodeficiency, common variable, 8 PMID:28197149 [P1(II.1)]
105357 M 215719 9 Diarrhea Immunodeficiency, common variable, 8 PMID:29804237 [P1]
105361 F 215701tree icon - Pakistani Enteropathy Immunodeficiency 87 PMID:31308374 [Fam.A:III.3(P2)]
105386 F 215737 1 Diarrhea Immunodeficiency, common variable, 8 PMID:29183106 [Patient 8]
105388 M 215739 - Diarrhea Immunodeficiency, common variable, 8 PMID:31238161 [Fam.F1:P1]
105398 F 215749 0,- Diarrhea,Enteropathy Immunodeficiency, common variable, 8 PMID:31389321 [Patient 1]
105400 M 215751 1 Turkish Diarrhea Immunodeficiency, common variable, 8 PMID:32219082 [Patient 1]
105403 M 215754 9 Diarrhea Immunodeficiency, common variable, 8 PMID:32915433 [Patient 1]
105405 M 215756 15 Druze Diarrhea Immunodeficiency, common variable, 8 PMID:33013830 [Patient(II.2)]
105406 M 215757 - Diarrhea Immunodeficiency, common variable, 8 PMID:31876783 [Patient 1]
105412 F 215762tree icon 23,27 Caucasian Diarrhea,Enteropathy NFKB1 insufficiency PMID:32278790 [Fam.BB:I.1(I.1)]; PMID:30063981 [Fam.1:II.2(II.2)]; PMID:150198 [Fam.BM:II.3(300)]
105470 M 215774 -,- Iranian Diarrhea,Enteropathy NFKB1 insufficiency PMID:150198 [Fam.BP:309]; PMID:31117086 [P35]
105533 M 215791 -,48 Portuguese Diarrhea,Intermittent diarrhea CTLA4 haploinsufficiency with autoimmune infiltration PMID:29225858 [Patient(I.1)]
105542 M 215796 49 Diarrhea CTLA4 haploinsufficiency with autoimmune infiltration PMID:28983403 [P6]
105543 M 215797 40 Diarrhea CTLA4 haploinsufficiency with autoimmune infiltration PMID:28983403 [P7]
105544 F 215798 -,- Chinese (China) Bloody diarrhea,Diarrhea Immunodeficiency, common variable, 8 PMID:29140941 [P23]
105549 F 215801 - Caucasian Diarrhea CTLA4 haploinsufficiency with autoimmune infiltration PMID:29200144 [Fam.A:IV.1(P1)]
105558 F 215804 -,0 Moroccan Diarrhea,Enteropathy Immunodeficiency, common variable, 8 PMID:30193839 [Patient(II.1)]
105562 M 215805 10 Turkish Bloody diarrhea Immunodeficiency, common variable, 8 PMID:31026575 [P1]; PMID:31432443 [P4]
105563 F 215806 1 Turkish Diarrhea Immunodeficiency, common variable, 8 PMID:31026575 [P2]; PMID:31432443 [P6(II.1)]
105567 M 215808 - Turkish Bloody diarrhea Immunodeficiency, common variable, 8 PMID:31026575 [P3]; PMID:31432443 [P12]
105568 M 215809 0 Diarrhea Activated p110-delta syndrome 1 PMID:24698326 [Fam.A:II.1(P2)]
105571 U 215810 2 Diarrhea Activated p110-delta syndrome 1 PMID:24698326 [P3]
105572 M 215811 11 South Asian Diarrhea Immunodeficiency, common variable, 8 PMID:32154999 [Patient]
105573 U 215812 8 Diarrhea Activated p110-delta syndrome 1 PMID:24698326 [P4]
105574 U 215813 5 Diarrhea Activated p110-delta syndrome 1 PMID:24698326 [P5]
105576 U 215815 2 Diarrhea Activated p110-delta syndrome 1 PMID:24698326 [P8]
105583 M 215817 1 Diarrhea Immunodeficiency, common variable, 8 PMID:33713070 [Case2]
105585 F 215818 0 Diarrhea Immunodeficiency, common variable, 8 PMID:33713070 [Case3]
105628 F 215822 - Caucasian Bloody diarrhea Activated p110-delta syndrome 1 PMID:25352054 [Fam.1:III.3(P5)]
105629 M 215823 2 Diarrhea Immunodeficiency, common variable, 8 PMID:34368306 [Patient 1]
105635 F 215829 3 Caucasian Bloody diarrhea Activated p110-delta syndrome 1 PMID:26371693 [1]
105640 F 215830 -,1 Bloody diarrhea,Diarrhea Immunodeficiency, common variable, 8 PMID:34368306 [Patient 2]
105647 M 215832 1 Diarrhea Immunodeficiency, common variable, 8 PMID:34368306 [Patient 3]
105648 M 215833 1 Diarrhea Immunodeficiency, common variable, 8 PMID:33845048 [Patient]
105714 M 211370tree icon - Turkish Diarrhea NFKB1 insufficiency PMID:32278790 [Fam.AJ:III.1(III.1)]; PMID:150198 [Fam.BZ:III.1(380)]; GRID:001142 [Fam.*:III.1(FR095)]
105773 M 215866 61,63 German Diarrhea,Enteropathy NFKB1 insufficiency PMID:32278790 [BU.I.1]; PMID:150198 [Fam.DF:463]; PMID:36105815 [A245V]
105775 F 215868 31 German Diarrhea NFKB1 insufficiency PMID:32278790 [BX.I.1]; PMID:150198 [Fam.DI:466]; PMID:36105815 [Y286N]
105777 M 215870 - Iranian Diarrhea NFKB1 insufficiency PMID:32278790 [CA.I.1]; PMID:150198 [Fam.DL:469]; PMID:36105815 [Fam.K326N/CA:K326N/2]
105779 F 215872 - Turkish Diarrhea NFKB1 insufficiency PMID:32278790 [CC.I.1]; PMID:150198 [Fam.DN:474]
105783 F 215876tree icon - Caucasian Enteropathy NFKB1 insufficiency PMID:150198 [Fam.DR:III.1(483)]; PMID:32972988 [Fam.1:II.1(Index)]
105797 M 215879 - Diarrhea Infantile-Onset Multisystem Autoimmune Disease 1 PMID:33864888 [S041]
105799 M 215881tree icon 0 Pakistani Diarrhea Combined immunodeficiency 41 PMID:32980423 [Fam.1:V.2(1.V.2)]; PMID:150198 [Fam.DS:V.2(506)]
105812 M 215881tree icon - Pakistani Diarrhea PMID:32980423 [Fam.1:III.3(1.III.3)]; PMID:150198 [Fam.DS:III.3(496)]
105824 M 215834tree icon - Spanish Diarrhea NFKB1 insufficiency PMID:32278790 [Fam.AV:I.2(I.2)]; PMID:150198 [Fam.BL:I.1(292)]
105830 M 215887 0 Polish Diarrhea Activated p110-delta syndrome 1 PMID:26437962 [Fam.2 Sporadic pati:2 Sporadic patient 2]
105850 F 215891tree icon - Enteropathy Autoinflammation, immune dysregulation, and eosinophilia PMID:33864888 [S066(II.6)]
105851 M 215892 - Enteropathy Autoinflammation, immune dysregulation, and eosinophilia PMID:33864888 [S067]
105852 M 215893tree icon - Enteropathy Autoinflammation, immune dysregulation, and eosinophilia PMID:33864888 [S170(II.1)]
105859 F 215894tree icon -,46 British Diarrhea,Enteropathy 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)]
105898 F 215901tree icon - Enteropathy NFKB1 insufficiency PMID:150198 [Fam.DY:II.1(544)]; PMID:34825039 [Fam.1:II.1(index)]
105974 M 215918 - Japanese Enteropathy 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)]
105977 F 215918 - Japanese Diarrhea 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)]
105985 F 215920 - Japanese Enteropathy 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 215921tree icon -,47 Diarrhea,Enteropathy NFKB1 insufficiency PMID:150198 [Fam.FG:II.2(630)]; PMID:36203612 [Fam.1:II.2(1.II.1)]
106016 F 215725 - Caucasian Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.Z:I.2(Z.I.2 (62))]
106043 F 215928 -,2 Afro-American Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.HH:II.1(HH.II.1 (82))]
106051 F 210991 - Caucasian Diarrhea CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.NN:II.2(NN.II.1 (89))]
106068 M 215931 - Caucasian Diarrhea CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.PP:II.1(PP.II.1 (96))]
106070 F 215933 -,- Caucasian Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.SS:II.1(SS.II.1 (99))]
106094 M 215947 -,- Caucasian Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.VV:II.1(VV.II.1 (124))]
106097 M 215948 - Caucasian Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.WW:II.1(WW.II.1 (125))]
106106 F 215951tree icon - Iranian Enteropathy NFKB1 insufficiency PMID:150198 [Fam.FF:II.1(626)]; PMID:36113674 [P5(II.1)]
106144 F 215953 - Italian Diarrhea T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:33464451 [P8]; PMID:37419334 [P8(27)]
106150 F 215955 - Turkish Diarrhea T-cell immunodeficiency, congenital alopecia, and nail dystrophy PMID:33464451 [P10]
106167 F 215966 - Turkish Diarrhea Immunodeficiency, common variable, 8 PMID:31432443 [P11]
106171 F 215970 - Turkish Enteropathy Immunodeficiency, common variable, 8 PMID:31432443 [P15]
106172 F 215971 -,- German Diarrhea,Enteropathy NFKB1 insufficiency PMID:150198 [Fam.FI:660]; GRID:001142 [FR302]
106178 M 215974tree icon - Finnish Diarrhea NFKB1 insufficiency PMID:150198 [Fam.FL:III.2(672)]; PMID:36356849 [Fam.1:III.2(F1:III:2)]; PMID:38593810 [Fam.2:II.2(F2.II-1)]
106198 M 215974tree icon - Finnish Diarrhea NFKB1 insufficiency PMID:150198 [Fam.FL:IV.3(683)]; PMID:36356849 [Fam.1:IV.3(F1:IV:3)]
106209 F 215975tree icon - Finnish Diarrhea NFKB1 insufficiency PMID:150198 [Fam.FM:III.3(694)]; PMID:36356849 [Fam.2:III.3(F2:III:3)]
106223 M 215976tree icon - Finnish Diarrhea 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)]
106240 F 215977 -,- Caucasian Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.UU:IV.14(UU.IV.12 (120))]; PMID:29305966 [IV.2(IV.2)]
106246 F 215977 -,- Caucasian Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.UU:III.11(UU.III.7 (111))]; PMID:29305966 [Fam.IV.2:III.2(III.2)]
106248 F 215977 -,- Caucasian Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.UU:III.15(UU.III.10 (113))]; PMID:29305966 [Fam.IV.2:III.4(III.5)]
106250 M 215977 -,- Caucasian Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.UU:III.5(UU.III.4 (109))]; PMID:29305966 [Fam.IV.2:III.6(III.8)]
106251 M 215977 -,- Caucasian Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.UU:III.13(UU.III.9 (112))]; PMID:29305966 [Fam.IV.2:III.7(III.3)]
106259 F 215977 -,- Caucasian Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.UU:III.2(UU.III.2 (107))]; PMID:29305966 [Fam.IV.2:III.12(III.4)]
106264 M 215977 -,- Caucasian Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.UU:IV.11(UU.IV.10 (119))]; PMID:29305966 [Fam.IV.2:IV.5(IV.11)]
106279 M 215977 -,- Caucasian Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.UU:V.2(UU.V.2 (122))]; PMID:29305966 [Fam.IV.2:V.1(V.1)]
106304 M 215981tree icon -,- Chinese (China) Diarrhea,Enteropathy NFKB1 insufficiency PMID:150198 [Fam.FO:II.5(717)]; PMID:36571238 [Fam.1:II.5(II:5[P1])]
106313 F 215982 9,- Caucasian Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [P1]
106315 F 215771tree icon 2 Caucasian Diarrhea NFKB1 insufficiency PMID:150198 [Fam.BV:III.1(346)]; PMID:36105815 [Fam.R157P:III.1(S8's daugther)]
106323 M 215985tree icon 16 Diarrhea NFKB1 insufficiency PMID:150198 [Fam.EZ:II.1(612)]; PMID:36105815 [Fam.R284P:II.1(R284P/1)]
106330 F 215987tree icon - Italian Enteropathy NFKB1 insufficiency PMID:150198 [Fam.FR:II.2(733)]; PMID:37600787 [Fam.1:II.2(mother)]
106332 F 215988tree icon - Diarrhea T-cell lymphopenia with or without nail dystrophy, AD PMID:37419334 [P1(43)(II.2)]; PMID:34860543 [Fam.1:II.2(P1)]
106347 M 215994 28 Enteropathy NFKB1 insufficiency PMID:150198 [Fam.EY:609]; PMID:36105815 [R198C]
106355 F 215999tree icon - British Enteropathy Activated p110-delta syndrome 1 PMID:34922003 [Fam.C:II.1(C1)]
106358 M 216000 26 Diarrhea CTLA4 haploinsufficiency with autoimmune infiltration PMID:31993940 [Patient(II.1)]
106363 F 216001tree icon 0 Argentinian Diarrhea Immunodeficiency 117 PMID:36736301 [Fam.A:II.1(P1)]
106390 M 216005 17,17 Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:32996901 [Patient(II.1)]
106406 M 216007 - Enteropathy NFKB1 insufficiency PMID:150198 [Fam.FK:662]; PMID:35242131 [P1]
106419 F 216013tree icon 0 Diarrhea T-negative/B-positive SCID type 1 PMID:7481768 [AP(II.1)]
106453 M 216018 - Egyptian Enteropathy Immunodeficiency, common variable, 8 PMID:32506362 [P2(II.1)]
106455 M 216019 -,- Egyptian Diarrhea,Enteropathy Immunodeficiency, common variable, 8 PMID:32506362 [P4]
106475 M 216028 -,- Egyptian Bloody diarrhea,Enteropathy Immunodeficiency, common variable, 8 PMID:32506362 [P10]
106476 M 216029 -,- Egyptian Bloody diarrhea,Enteropathy Immunodeficiency, common variable, 8 PMID:32506362 [P11]
106477 M 216030 - Egyptian Enteropathy Immunodeficiency, common variable, 8 PMID:32506362 [P12]
106478 F 216031 - Egyptian Diarrhea Immunodeficiency, common variable, 8 PMID:32506362 [P13]
106479 M 216032 - Egyptian Mucoid diarrhea Immunodeficiency, common variable, 8 PMID:32506362 [P14(II.1)]
106481 F 216034 - Egyptian Diarrhea Immunodeficiency, common variable, 8 PMID:32506362 [Fam.216032:II.3(P16)]
106491 F 216044tree icon 1 Protracted diarrhea Immunodeficiency 22 PMID:22985903 [Fam.1:II.1(patient)]
106495 F 216045 2 Diarrhea Immunodeficiency, common variable, 8 PMID:33178652 [Patient]
106496 F 216046 - Caucasian Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:31156616 [Fam.A:II.2(A.II.2)]
106497 F 216046 - Caucasian Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:31156616 [Fam.A:I.1(A.I.1)]
106499 F 216046 - Caucasian Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:31156616 [Fam.A:II.1(A.II.1)]
106501 M 216047 - Caucasian Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:31156616 [Fam.B:II.2(B.II.1)]
106555 M 216078tree icon - Caucasian Diarrhea Adenosine deaminase 2 deficiency PMID:26867732 [Fam.A:II.1(P1)]; PMID:25075845 [Fam.1:II.2(Young-bro)]
106558 M 216078tree icon - Caucasian Diarrhea Adenosine deaminase 2 deficiency PMID:26867732 [Fam.A:II.2(P2)]; PMID:25075845 [Fam.1:II.1(Old-bro)]
106577 F 216081tree icon - Caucasian Diarrhea Adenosine deaminase 2 deficiency PMID:26867732 [Fam.D:II.2(P6)]
106581 F 216082tree icon - Caucasian Diarrhea Adenosine deaminase 2 deficiency PMID:26867732 [Fam.E:II.1(P7)]
106594 F 216085 38 Diarrhea CTLA4 haploinsufficiency with autoimmune infiltration PMID:34116213 [Fam.A:I.2(mother)]
106595 F 216086 12,12,8 Diarrhea,Enteropathy,Protracted diarrhea CTLA4 haploinsufficiency with autoimmune infiltration PMID:34116213 [Fam.B:P2]
106596 F 216087tree icon - French Diarrhea Autoinflammation, immune dysregulation, and eosinophilia PMID:38563820 [Fam.1:I.2(P1)]
106599 M 216087tree icon - French Diarrhea Autoinflammation, immune dysregulation, and eosinophilia PMID:38563820 [Fam.1:II.1(P2)]
106600 M 216087tree icon - French Diarrhea Autoinflammation, immune dysregulation, and eosinophilia PMID:38563820 [Fam.1:II.2(P3)]
106622 M 216091tree icon - Ashkenazi Jewish Diarrhea Autoinflammation, immune dysregulation, and eosinophilia PMID:38563820 [Fam.4:II.1(P11)]
106625 F 216092tree icon - Admixed Diarrhea Autoinflammation, immune dysregulation, and eosinophilia PMID:38563820 [Fam.5:II.2(P13)]
106630 M 216093tree icon - Ashkenazi Jewish Diarrhea Autoinflammation, immune dysregulation, and eosinophilia PMID:38563820 [Fam.6:II.1(P16)]
106636 F 216095 - Iranian Enteropathy Activated p110-d syndrome 2 PMID:31117086 [P34]
106637 M 216096tree icon - Danish Enteropathy Infantile-Onset Multisystem Autoimmune Disease 1 PMID:32047491 [P3(II.1)]
106646 M 216099 22 Diarrhea CTLA4 haploinsufficiency with autoimmune infiltration PMID:34628649 [Patient(III.1)]
106669 M 216103 51 Enteropathy NFKB1 insufficiency PMID:150198 [Fam.EE:565]; PMID:35281075 [5]
106707 M 216114 - Japanese Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:35087518 [Fam.21:II.2(21.3)]
106708 F 216115 - Japanese Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:35087518 [Fam.23:23.1]
106709 F 216116 - Japanese Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:35087518 [Fam.24:24.1]
106710 M 216117 - Japanese Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:35087518 [Fam.25:25.1]
106711 F 216118 - Japanese Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:35087518 [Fam.26:26.1]
106761 F 216124tree icon 0 Caucasian Diarrhea T-negative/B-positive SCID type 1 PMID:28916186 [P5]; PMID:31440277 [pt(II.1)]
106777 F 216128 1 Brasilian Diarrhea T-negative/B-positive SCID type 1 PMID:30177960 [Fam.Fam2:IV.2(Pt.2)]
106816 F 216162 - Diarrhea Immunodeficiency, common variable, 8 PMID:39184709 [Fam.1:II.1(Patient)]
106832 M 216164 4,7 Bloody diarrhea,Diarrhea Immunodeficiency, common variable, 8 PMID:30479033 [Patient]
106840 M 216167 - SouthEast Asian Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:35242131 [3]
106854 F 216173tree icon - Caucasian Bloody diarrhea Adenosine deaminase 2 deficiency PMID:31008556 [Fam.5:II.1(P5)]
106912 F 216186 49,49 Diarrhea,Enteropathy Immunodeficiency, common variable, 8 PMID:39289195 [Patient(II.2)]
106939 M 216189tree icon - Caucasian Diarrhea NFKB1 insufficiency PMID:150198 [Fam.FW:II.1(772)]; PMID:38423196 [Fam.1:II.1(P1)]
106957 F 216198 - Enteropathy Infantile-Onset Multisystem Autoimmune Disease 1 PMID:30092289 [P13]
106958 M 216199 - Enteropathy Infantile-Onset Multisystem Autoimmune Disease 1 PMID:30092289 [P14]
106959 M 216200 - Enteropathy Infantile-Onset Multisystem Autoimmune Disease 1 PMID:30092289 [P17]; PMID:35677041 [Pt9]
107043 M 216282 - Enteropathy Activated p110-delta syndrome 1 PMID:27444043 [P1]
107044 M 216283 - Diarrhea Activated p110-delta syndrome 1 PMID:28983403 [P1]
107092 F 216330tree icon 0,0 Japanese Diarrhea,Enteropathy Infantile-Onset Multisystem Autoimmune Disease 1 PMID:33501615 [Fam.1:II.1(P1.2)]
107095 M 216331 - Japanese Enteropathy Infantile-Onset Multisystem Autoimmune Disease 1 PMID:33501615 [P2]
107096 F 216332 - Japanese Diarrhea Infantile-Onset Multisystem Autoimmune Disease 1 PMID:33501615 [P3]
107103 M 216335tree icon - Chinese (China) Diarrhea Infantile-Onset Multisystem Autoimmune Disease 1 PMID:35677041 [Pt1(II.2)]
107107 M 216336 - Enteropathy Hyper-IgE recurrent infection syndrome 1 PMID:33864888 [S097]
107108 F 216337 -,- German Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:34619682 [P.165]
107109 F 216338 - German Diarrhea CTLA4 haploinsufficiency with autoimmune infiltration PMID:34619682 [P.215]
107110 M 216339tree icon - Indian Diarrhea Autoinflammation with episodic fever and immune dysregulation PMID:38609546 [P1(IV.2)]
107151 M 216364tree icon 4 Turkish Diarrhea Hyper-IgE recurrent infection syndrome 2 PMID:39437980 [Fam.A:II.1(Patient 1)]
107212 F 216374 1 Arab Diarrhea Combined immunodeficiency 37 PMID:31775018 [Patient]
107225 M 216381tree icon 0 Vietnamese Diarrhea Hemophagocytic lymphohistiocytosis, familial 5 PMID:36503158 [Patient(III.3)]
107249 F 216398tree icon - Argentinian Diarrhea Infantile-Onset Multisystem Autoimmune Disease 1 PMID:35677041 [Pt7]; PMID:29378236 [Fam.1:Patient 1]
107252 M 216399tree icon - North American Intractable diarrhea Infantile-Onset Multisystem Autoimmune Disease 1 PMID:29378236 [Fam.2:II.2(Patient 2)]

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