Enteropathy

Basic details

Preferred term: Enteropathy
Alt. terms: Bowel disease | abnormality of the intestine | intestinal disorder

HPO term: Abnormal intestine morphology
HPO code: HP:0002242

GenIA ID: 32
Last updated on: 2021-12-10 17:55:48

Cross ref. with other ontologies

NCIT: C26801
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: K63.9

Description

An abnormality of intestine physiology or intestine morphology. The closely related term enteropathy is used to refer to any disease of the intestine.

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]
101019 F 210316 54 German Intestinal lymphoid nodular hyperplasia PMID:34975878 [Fam.F004:P004]
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)]
101053 F 211287 0 Celiac disease PMID:34975878 [Fam.F022:P022]
101058 M 210120 - Inflammation of the large intestine Immunodeficiency 31C PMID:34390440 [CMC21]
101062 M 212603tree icon 3 South Asian Inflammation of the large intestine 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 42 German Diarrhea PMID:34975878 [Fam.F054:P054]
101091 M 210911 26 Intestinal lymphoid nodular hyperplasia DiGeorge syndrome PMID:34975878 [Fam.F057:P057]; PMID:35486341 [P180]
101093 M 211289 32 German Diarrhea Immunodeficiency, common variable, 8 PMID:34975878 [Fam.F059:P059]; PMID:31857261 [Patient 4]
101095 M 210286 -,1 Celiac disease,Enteropathy PMID:34975878 [Fam.F060:P060]
101101 M 211414 - Diarrhea Immunodeficiency, common variable, 13 PMID:31057532 [Fam.G:II.1]
101115 F 210778 - Caucasian Diarrhea NFKB1 insufficiency PMID:34975878 [Fam.F069:P069]; PMID:32278790 [AC.I.1]; PMID:150198 [Fam.CK:427]
101116 M 210282tree icon 42 German Intestinal lymphoid nodular hyperplasia 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]
101119 M 210264 15 Malabsorption PMID:34975878 [Fam.F070:P070]
101121 M 210784 44 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]
101124 F 210216 - German Intestinal lymphoid nodular hyperplasia PMID:34975878 [Fam.F075:P075]
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 Celiac disease,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]
101167 M 211470tree icon 49 Intussusception NFKB1 insufficiency PMID:34975878 [Fam.F108:P108]; PMID:33486103 [Fam.1:II.1(patient)]; PMID:150198 [Fam.DT:II.1(510)]
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]
101204 M 211492 54 German Intestinal lymphoid nodular hyperplasia PMID:34975878 [Fam.F126:P126]
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)]
101260 M 212144 - Iranian Autoimmune enteropathy Immunodeficiency, common variable, 8 PMID:22608502 [Fam.C:II.1(P4)]; PMID:29528757 [Case 7]; PMID:26707784 [P4]; PMID:26993986 [F6]; PMID:28512785 [P14]
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]
101286 F 212146 - 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 - 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 16 Saudi Enteritis 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]
101354 M 212156 - Chinese (China) Celiac disease Immunodeficiency, common variable, 8 PMID:28473463 [Fam.7:II.1]
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]
101527 M 210728 - Intestinal lymphoid nodular hyperplasia PMID:34975878 [Fam.F175:P175]
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]
101575 M 210900 45 German Intestinal lymphoid nodular hyperplasia Adenosine deaminase 2 deficiency PMID:34975878 [Fam.F198:P198]; PMID:28493328 [P2]
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]
101617 M 210994 52 Diarrhea Immunodeficiency, common variable, 2 PMID:34975878 [Fam.F212:P212]
101622 F 212623tree icon - Moroccan Enteritis 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)]
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]
101667 M 212631tree icon 0 Moroccan Enteritis ARPC1B deficiency PMID:30771411 [P6(II.2)]; PMID:35767111 [P5]
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)]
101719 F 210022 - Iranian Inflammation of the large intestine Immunodeficiency, common variable, 8 PMID:26768763 [Fam.134:II.1(P4)]; PMID:25539626 [Fam.P1:II.2(P2)]; PMID:26707784 [P13]
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 -,15 Caucasian Enteropathy,Inflammation of the large intestine 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 - 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 -,- 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)]
101800 M 215769tree icon - Caucasian Inflammation of the large intestine 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)]
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]
101827 M 211564 2 Celiac disease PMID:34975878 [Fam.F291:P291]
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]
101897 F 211768 19 Celiac disease PMID:34975878 [Fam.F328:P328]
101915 F 211935 -,- Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:34975878 [Fam.F341:P341]
101922 F 211937 46 Crohn ileitis PMID:34975878 [Fam.F342:P342]
101950 F 212045 - Enteropathy PMID:34975878 [Fam.F372:P372]
101951 M 212062 - Enteropathy PMID:34975878 [Fam.F375:P375]
101987 F 214115 - Inflammation of the large intestine PMID:34390440 [NEG094]
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 - Slovenian Autoimmune enteropathy 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))]
102222 M 214917 -,- German Diarrhea,Enteropathy NFKB1 insufficiency PMID:32278790 [BY.I.1]; PMID:35486341 [P074]; PMID:150198 [Fam.DJ:467]; PMID:36105815 [W295C]
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]
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)]
102677 M 214980tree icon 21 Pakistani Intestinal polyp JAK1 deficiency PMID:28008925 [Patient(II.4)]
102819 M 214995 0 Diarrhea Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency PMID:14523047 [Patient(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]
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)]
103858 M 215262tree icon - Turkish Intestinal perforation Adenosine deaminase 2 deficiency PMID:24552284 [Fam.7:II.2(P8)]; PMID:26233953 [Fam.F2:II.1(P3)]
103859 M 215263tree icon - Turkish Diarrhea Adenosine deaminase 2 deficiency PMID:24552284 [Fam.8:II.1(P9)]; PMID:26233953 [Fam.F4:P5]
103876 F 215265tree icon 1 Finnish Celiac disease Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25038750 [P1]
103877 F 215266tree icon - Finnish Diarrhea Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25038750 [P2]; PMID:25349174 [Fam.2:II.2(Patient 2)]; PMID:35677041 [Pt2]
103879 M 215268tree icon - Finnish Autoimmune enteropathy Infantile-Onset Multisystem Autoimmune Disease 1 PMID:25038750 [P4]
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 - 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)]
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)]
104532 M 215544tree icon - Caucasian Inflammation of the large intestine X-linked multisystem autoinflammatory disease with immune dysregulation PMID:36952639 [Fam.A:II.1(Patient A)]
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)]
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)]
104671 F 215568tree icon 5 Lebanese Celiac disease Severe early onset systemic inflammation and autoimmunity PMID:37349293 [Fam.1:II.1(P1)]
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)]
104715 M 215572tree icon - French Constipation Autoinflammation, immune dysregulation, and eosinophilia PMID:37343845 [V-1(V.1)]
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,- 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)]
104923 M 215620tree icon - Inflammation of the large intestine Immunodeficiency, common variable, 14 PMID:36193988 [Patient(II.1)]; PMID:37876937 [Fam.D:II.1(D.1)]
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)]
104953 F 215622tree icon - Dutch Celiac disease NFKB1 insufficiency PMID:32278790 [Fam.NA:II.14(II.14)]; PMID:26279205 [Fam.NL1:II.18(16)]; PMID:29403474 [Fam.NL1 (5):II.18(16)]; PMID:11583829 [Fam.1:II.17(II:17)]; PMID:16639407 [Fam.1:II.18(16)]; PMID:150198 [Fam.AA:II.18(020)]
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)]
104989 F 215622tree icon 1 Dutch Enteritis NFKB1 insufficiency PMID:32278790 [Fam.NA:IV.7(IV.7)]; PMID:26279205 [Fam.NL1:IV.8(49)]; PMID:29403474 [Fam.NL1 (5):IV.8(49)]; PMID:11583829 [Fam.1:IV.6(IV:6)]; PMID:16639407 [Fam.1:IV.6(49)]; PMID:150198 [Fam.AA:IV.8(064)]
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 -,- 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,Inflammation of the large intestine 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 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)]
105131 M 215648 - Italian Celiac disease NFKB1 insufficiency PMID:32278790 [BG.I.1]; PMID:29403474 [Patient 1 (6)]; PMID:27923702 [Patient 1]; PMID:27555455 [Patient 1]; PMID:150198 [Fam.AN:160]
105143 F 215650 -,- 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)]
105183 M 215662 - Autoimmune enteropathy PMID:27102614 [Fam.D:II.2(brother)]
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)]
105191 F 215664 23 Caucasian Intestinal lymphoid nodular hyperplasia CTLA4 haploinsufficiency with autoimmune infiltration PMID:27102614 [Fam.F:II.2(8)]
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)]
105231 M 215671tree icon 30 Finnish Celiac disease NFKB1 insufficiency PMID:32278790 [Fam.F2:III.2(III.2)]; PMID:29403474 [Fam.2 (9):III.2(F2.III-2)]; PMID:28115215 [Fam.2:III.2(F2.III-2)]; PMID:150198 [Fam.AR:III.2(193)]; PMID:36356849 [Fam.5:III.2(F5:III:2)]
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 Turkish Enteropathy 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 -,- North American Diarrhea,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration GRID:000111 [Patient(I.1)]
105302 M 215686tree icon - European Celiac disease NFKB1 insufficiency PMID:32278790 [Fam.C:II.5(II.5)]; PMID:29477724 [Fam.C:II.5(II:5)]; PMID:150198 [Fam.AW:II.5(251)]
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 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 - Turkish Diarrhea Immunodeficiency, common variable, 8 PMID:26686526 [P1]
105355 M 215717 -,- 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)]
105385 M 215736 - Inflammation of the large intestine Immunodeficiency, common variable, 8 PMID:29183106 [P7]
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 27,23 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)]
105423 M 215765tree icon - Caucasian Malabsorption NFKB1 insufficiency PMID:150198 [Fam.BO:II.2(308)]; PMID:30761159 [Fam.1:II.2(patient)]
105463 M 215772tree icon - Russian Intestinal lymphoid nodular hyperplasia 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 Diarrhea,Enteropathy NFKB1 insufficiency PMID:150198 [Fam.BP:309]; PMID:31117086 [P35]
105530 F 215790 - Malabsorption Infantile-Onset Multisystem Autoimmune Disease 1 PMID:27379089 [P8]
105533 M 215791 - Portuguese 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) 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 Malabsorption 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)]
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]
105581 M 215756 - Druze Celiac disease PMID:33013830 [Fam.Patient:II.1(old-bro)]
105583 M 215817 - Diarrhea Immunodeficiency, common variable, 8 PMID:33713070 [Case2]
105585 F 215818 - Diarrhea Immunodeficiency, common variable, 8 PMID:33713070 [Case3]
105629 M 215823 2 Diarrhea Immunodeficiency, common variable, 8 PMID:34368306 [Patient 1]
105635 F 215829 3 Caucasian Intestinal lymphoid nodular hyperplasia Activated p110-delta syndrome 1 PMID:26371693 [1]
105640 F 215830 1 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]
105657 F 215835 - Intestinal lymphoid nodular hyperplasia Activated p110-delta syndrome 1 PMID:27379089 [11]
105671 M 215837tree icon - Spanish Celiac disease NFKB1 insufficiency PMID:32278790 [Fam.AF:II.1(II.1)]; PMID:150198 [Fam.BY:II.1(363)]
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)]
105740 U 215845 - Inflammation of the large intestine NFKB1 insufficiency PMID:32278790 [R.I.1]; PMID:150198 [Fam.CI:425]
105751 M 215854 - Malabsorption NFKB1 insufficiency PMID:32278790 [AW.I.1]; PMID:150198 [Fam.CR:437]
105754 F 215857 - Asian Celiac disease NFKB1 insufficiency PMID:32278790 [AZ.I.1]; PMID:150198 [Fam.CU:440]
105758 M 215861 - Iranian Celiac disease NFKB1 insufficiency PMID:32278790 [BM.I.1]; PMID:150198 [Fam.CY:444]; PMID:36105815 [BM.I.1]
105773 M 215866 63,- German Diarrhea,Enteropathy NFKB1 insufficiency PMID:32278790 [BU.I.1]; PMID:150198 [Fam.DF:463]; PMID:36105815 [A245V]
105775 F 215868 - German Diarrhea NFKB1 insufficiency PMID:32278790 [BX.I.1]; PMID:150198 [Fam.DI:466]; PMID:36105815 [Y286N]
105776 M 215869 - Iranian Celiac disease NFKB1 insufficiency PMID:32278790 [BZ.I.1]; PMID:150198 [Fam.DK:468]; PMID:36105815 [Fam.K326N/BZ:K326N/1]
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]
105780 F 215873 - German Inflammation of the large intestine NFKB1 insufficiency PMID:32278790 [CD.I.1]; PMID:150198 [Fam.DO:475]
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]
105834 F 211470tree icon - Inflammation of the large intestine PMID:33486103 [Fam.1:II.4(sister2)]; PMID:150198 [Fam.DT:II.4(513)]
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,Inflammation of the large intestine 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 -,- 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]
106164 M 215963 - Turkish Celiac disease Immunodeficiency, common variable, 8 PMID:31432443 [P8]
106165 M 215964 - Turkish Celiac disease Immunodeficiency, common variable, 8 PMID:31432443 [P9]
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)]
106268 M 215977 - Caucasian Celiac disease CTLA4 haploinsufficiency with autoimmune infiltration PMID:29729943 [Fam.UU:IV.10(UU.IV.9 (118))]; PMID:29305966 [Fam.IV.2:IV.6(IV.10)]
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)]
106287 F 215979tree icon - Caucasian Inflammation of the large intestine PMID:150198 [Fam.FZ:II.3(791)]; PMID:38593810 [Fam.6:I.3]
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 19 Diarrhea CTLA4 haploinsufficiency with autoimmune infiltration PMID:31993940 [Patient(II.1)]
106363 F 216001tree icon - 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)]
106401 F 216006tree icon - German Enteritis PMID:36273440 [Fam.III.3:III.1]
106402 F 216006tree icon 14 German Celiac disease CTLA4 haploinsufficiency with autoimmune infiltration PMID:36273440 [Fam.III.3:III.2]
106406 M 216007 -,29 Enteritis,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 Enteropathy Immunodeficiency, common variable, 8 PMID:32506362 [P10]
106476 M 216029 - Egyptian 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]
106481 F 216034 - Egyptian Diarrhea Immunodeficiency, common variable, 8 PMID:32506362 [Fam.216032:II.3(P16)]
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 12,8 Diarrhea,Enteropathy 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)]
106604 M 216088tree icon - Afro-American Inflammation of the large intestine Autoinflammation, immune dysregulation, and eosinophilia PMID:38563820 [Fam.2:II.4(P7)]
106618 F 216090tree icon - Ashkenazi Jewish Inflammation of the large intestine Autoinflammation, immune dysregulation, and eosinophilia PMID:38563820 [Fam.3:II.1(P9)]
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)]
106787 M 216138 - Inflammation of the large intestine Infantile-Onset Multisystem Autoimmune Disease 1 PMID:34619682 [P.278]
106816 F 216162 - Diarrhea Immunodeficiency, common variable, 8 PMID:39184709 [Fam.1:II.1(Patient)]
106832 M 216164 4 Diarrhea Immunodeficiency, common variable, 8 PMID:30479033 [Patient]
106840 M 216167 -,22 SouthEast Asian Enteritis,Enteropathy CTLA4 haploinsufficiency with autoimmune infiltration PMID:35242131 [3]
106854 F 216173tree icon 1 Caucasian Intestinal perforation Adenosine deaminase 2 deficiency PMID:31008556 [Fam.5:II.1(P5)]
106857 F 216173tree icon - Caucasian Intestinal perforation Adenosine deaminase 2 deficiency PMID:31008556 [Fam.5:II.2(P6)]
106861 F 216175 - Caucasian Ileitis Adenosine deaminase 2 deficiency PMID:31008556 [Fam.7:P9]
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]
107097 F 216333tree icon 6 Japanese Inflammation of the large intestine Infantile-Onset Multisystem Autoimmune Disease 1 PMID:33501615 [Fam.4:P4.1]
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)]
107138 M 216357 6 Intestinal lymphoid nodular hyperplasia Activated p110-delta syndrome 1 PMID:28469999 [Patient(II.1)]
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)]
107245 M 216394tree icon 2 Caucasian Celiac disease Infantile-Onset Multisystem Autoimmune Disease 1 PMID:30809743 [Fam.2:II.1(Pt#2)]
107249 F 216398tree icon - Argentinian Diarrhea Infantile-Onset Multisystem Autoimmune Disease 1 PMID:35677041 [Pt7]; PMID:29378236 [Fam.1:Patient 1]

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