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
TERM
Enteropathy
CHILD terms
- Diarrhea
- Intestinal lymphoid nodular hyperplasia
- Crohn ileitis
- Enteritis
- Malabsorption
- Irritable bowel syndrome
- Celiac disease
- Bowel diverticulosis
- Inflammation of the large intestine
- Constipation
- Ileitis
- Abnormality of the small intestine
- Abnormal large intestine morphology
- Intestinal malrotation
- Intussusception
- Volvulus
- Intestinal bleeding
- Intestinal lymphangiectasia
- Intestinal pseudo-obstruction
- Intestinal obstruction
- Multiple intestinal neurofibromatosis
- Intestinal edema
- Intestinal hypoplasia
- Intestinal polyp
- Intestinal atresia
- Abnormality of enteric nervous system morphology
- Abnormality of intestinal smooth muscle morphology
- Intestinal perforation
- Intestinal duplication
- Intestinal fistula
- Autoimmune enteropathy
- Intramural intestinal gas
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 | 210008![]() |
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 | 210182![]() |
-,- | 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 | 210182![]() |
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 | 210182![]() |
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 | 210724![]() |
21 | Caucasian | Enteropathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.GG:II.1(79)]; PMID:31857261 [Patient 15] |
101044 | F | 210725![]() |
-,- | Caucasian | Diarrhea,Enteropathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.H:I.2(28)] |
101045 | M | 210205![]() |
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 | 210205![]() |
- | 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 | 210205![]() |
- | 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 | 210205![]() |
- | 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 | 210205![]() |
- | 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 | 212603![]() |
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 | 210282![]() |
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 | 210197![]() |
- | 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 | 211470![]() |
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 | 212109![]() |
0 | Turkish | Diarrhea | PMID:31057532 [Fam.I:II.1] | |
101176 | F | 212109![]() |
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 | 210205![]() |
- | 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 | 210189![]() |
- | 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 | 210205![]() |
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 | 210656![]() |
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 | 210220![]() |
- | 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 | 210314![]() |
- | 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 | 210401![]() |
- | 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 | 210220![]() |
-,- | 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 | 210020![]() |
- | 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 | 210205![]() |
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 | 212623![]() |
- | 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 | 211089![]() |
- | 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 | 212631![]() |
0 | Moroccan | Enteritis | ARPC1B deficiency | PMID:30771411 [P6(II.2)]; PMID:35767111 [P5] |
101693 | M | 212637![]() |
1 | Nepalese | Diarrhea | ARPC1B deficiency | PMID:30771411 [P14(II.1)] |
101712 | M | 212643 | - | Jordanian | Diarrhea | Agammaglobulinemia 4 | PMID:25893637 [P1(II.6)] |
101717 | F | 210260![]() |
- | 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 | 210260![]() |
- | 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 | 210261![]() |
-,- | 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 | 210182![]() |
-,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 | 210908![]() |
- | 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 | 210950![]() |
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 | 215769![]() |
- | 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 | 211221![]() |
- | 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 | 214393![]() |
- | 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 | 210182![]() |
- | 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 | 214926![]() |
0 | Mexican | Diarrhea | ARPC1B deficiency | PMID:32683750 [Fam.case:II.2(sister)]; PMID:36708766 [Fam.A:II.2(P1)] |
102262 | F | 214927![]() |
1 | Japanese | Diarrhea | OAS1 immunodeficiency | PMID:29455859 [Fam.C:II.1]; PMID:34145065 [P5(II.1)]; PMID:29185156 [P2] |
102277 | M | 214930![]() |
- | North American | Diarrhea | OAS1 immunodeficiency | PMID:34145065 [P2(II.1)] |
102281 | M | 214931![]() |
- | North American | Diarrhea | OAS1 immunodeficiency | PMID:34145065 [P3(II.2)] |
102357 | M | 214937![]() |
- | German | Diarrhea | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.A:II.1(P1)] |
102374 | M | 214944![]() |
- | Saudi | Diarrhea | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:V.I(P7)] |
102396 | F | 214944![]() |
- | Saudi | Diarrhea | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:IV.4(P5)] |
102397 | F | 214944![]() |
- | Saudi | Diarrhea | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:IV.5(P6)] |
102398 | F | 214944![]() |
- | Saudi | Diarrhea | Otofaciocervical syndrome 2 | PMID:32111619 [Fam.C:V.2(P4)] |
102641 | M | 214973![]() |
16 | European | Enteropathy | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.5:II.2(P5)] |
102649 | M | 214975![]() |
- | Czech | Enteropathy | Immunodeficiency 98 with autoinflammation | PMID:34981838 [Fam.1:II.2(Patient B)] |
102677 | M | 214980![]() |
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 | 215001![]() |
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 | 215003![]() |
- | 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 | 215005![]() |
0 | Lebanese | Diarrhea | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:25173801 [Patient(II.1)]; PMID:33464451 [P5]; PMID:28077132 [P9] |
102891 | F | 215006![]() |
0 | Indian | Diarrhea | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:28636882 [Patient(II.3)]; PMID:33464451 [P6] |
102894 | M | 215006![]() |
- | Indian | Diarrhea | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:28636882 [Fam.Patient:II.2]; PMID:33464451 [P7] |
102897 | M | 215007![]() |
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 | 215035![]() |
- | 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 | 215035![]() |
- | 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 | 215074![]() |
16 | European/American | Diarrhea | Immunodeficiency 97 | PMID:31554793 [A.1(II.1)] |
103067 | F | 215097![]() |
- | Finnish | Diarrhea | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F3:II.3(P4)] |
103281 | F | 215111![]() |
0 | Chinese (China) | Diarrhea | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.1:II.2(P1)] |
103285 | F | 215112![]() |
0 | Ashkenazi Jewish | Diarrhea | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.2:II.1(P2)] |
103286 | M | 215112![]() |
- | Ashkenazi Jewish | Diarrhea | Immunodeficiency 82 with systemic inflammation | PMID:33782605 [Fam.2:I.1(P3)] |
103288 | F | 215113![]() |
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 | 215135![]() |
- | French | Diarrhea | Immunodeficiency 55 | PMID:28414293 [Fam.B:II.1(P3)] |
103485 | F | 215137![]() |
- | French | Diarrhea | Immunodeficiency 55 | PMID:28414293 [Fam.D:II.1(P5)] |
103538 | F | 215155![]() |
1 | Mexican | Diarrhea | ARPC1B deficiency | PMID:36708766 [Fam.B:II.2(P3)] |
103745 | M | 215234![]() |
- | Georgian Jewish | Diarrhea | Adenosine deaminase 2 deficiency | PMID:24552285 [Fam.C:II.3(C-II-3)] |
103858 | M | 215262![]() |
- | Turkish | Intestinal perforation | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.7:II.2(P8)]; PMID:26233953 [Fam.F2:II.1(P3)] |
103859 | M | 215263![]() |
- | Turkish | Diarrhea | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.8:II.1(P9)]; PMID:26233953 [Fam.F4:P5] |
103876 | F | 215265![]() |
1 | Finnish | Celiac disease | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P1] |
103877 | F | 215266![]() |
- | Finnish | Diarrhea | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P2]; PMID:25349174 [Fam.2:II.2(Patient 2)]; PMID:35677041 [Pt2] |
103879 | M | 215268![]() |
- | Finnish | Autoimmune enteropathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P4] |
103880 | F | 215269![]() |
1 | Finnish | Diarrhea | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
104001 | F | 215322![]() |
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 | 215323![]() |
- | 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 | 215327![]() |
- | Enteropathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.2:II.1(P12)] | |
104011 | M | 215327![]() |
- | Enteropathy | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.2:I.2(P13)] | |
104268 | M | 215444![]() |
- | Ashkenazi Jewish | Diarrhea | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28153428 [Patient(II.2)] |
104392 | F | 215520![]() |
- | French | Diarrhea | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36122175 [Patient] |
104403 | M | 215524![]() |
1 | Asian | Diarrhea | Early-onset atopic inflammation | PMID:36216080 [Index(III.1)] |
104410 | M | 215525![]() |
0 | Japanese | Diarrhea | Early-onset atopic inflammation | PMID:36538978 [Patient(II.2)] |
104453 | F | 215530![]() |
15 | European | Diarrhea | Early-onset atopic inflammation | PMID:36884218 [Fam.D:II.1(P5)] |
104465 | M | 215533![]() |
0 | Diarrhea | Early-onset atopic inflammation | PMID:36884218 [Fam.G:II.1(P10)] | |
104532 | M | 215544![]() |
- | Caucasian | Inflammation of the large intestine | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.A:II.1(Patient A)] |
104535 | M | 215547![]() |
14 | Reunionese | Diarrhea | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.D:II.1(Patient D1)] |
104538 | M | 215547![]() |
9 | Reunionese | Diarrhea | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.D:II.2(Patient D2)] |
104540 | M | 215549![]() |
5 | North African | Diarrhea | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.F:II.1(Patient F)] |
104554 | M | 215551![]() |
- | 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 | 215551![]() |
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 | 215554![]() |
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 | 215561![]() |
- | Diarrhea | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:37342957 [Fam.D:II.1(P4)] | |
104671 | F | 215568![]() |
5 | Lebanese | Celiac disease | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.1:II.1(P1)] |
104685 | F | 215571![]() |
- | Iranian | Diarrhea | Severe early onset systemic inflammation and autoimmunity | PMID:37382373 [Fam.1:VI.6(VI.5)] |
104713 | M | 215571![]() |
- | Iranian | Diarrhea | Severe early onset systemic inflammation and autoimmunity | PMID:37382373 [Fam.1:VI.5(VI.4)] |
104715 | M | 215572![]() |
- | French | Constipation | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [V-1(V.1)] |
104739 | F | 215572![]() |
- | French | Diarrhea | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:III.4] |
104741 | M | 215572![]() |
- | French | Diarrhea | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:III.6] |
104748 | F | 215572![]() |
- | French | Diarrhea | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:III.13] |
104771 | M | 215572![]() |
- | French | Diarrhea | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:IV.5] |
104773 | F | 215572![]() |
- | French | Diarrhea | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:IV.7] |
104786 | F | 215573![]() |
22,2 | Diarrhea,Enteropathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.A:II.1(A.II.1)]; PMID:27418640 [P2(4)] | |
104787 | M | 215573![]() |
40,- | Diarrhea,Enteropathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.A:I.1(A.I.1)]; PMID:27418640 [P1(4)] | |
104791 | M | 215575![]() |
17,- | Diarrhea,Enteropathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.C:II.1(C.II.1)]; PMID:27418640 [P4(4)] | |
104796 | M | 215577![]() |
-,27 | Diarrhea,Enteropathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.D:II.4(D.II.1)]; PMID:27418640 [P5(4)] | |
104797 | M | 215577![]() |
- | Enteropathy | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25213377 [Fam.D:III.1(D.III.1)]; PMID:27418640 [P6(4)] | |
104838 | M | 215578![]() |
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 | 215579![]() |
- | 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 | 215598![]() |
- | 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 | 215613![]() |
-,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 | 215613![]() |
- | 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 | 215620![]() |
- | Inflammation of the large intestine | Immunodeficiency, common variable, 14 | PMID:36193988 [Patient(II.1)]; PMID:37876937 [Fam.D:II.1(D.1)] | |
104942 | F | 215622![]() |
- | 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 | 215622![]() |
- | 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 | 215622![]() |
- | 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 | 215622![]() |
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 | 215622![]() |
- | 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 | 215626![]() |
- | 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 | 215628![]() |
17 | Finnish | Diarrhea | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25349174 [Fam.3:II.1(Patient 3)] |
105043 | F | 215630![]() |
-,- | 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 | 215634![]() |
34 | Diarrhea | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:29180260 [Patient(II.1)] | |
105057 | F | 215635![]() |
- | 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 | 215639![]() |
- | 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 | 215647![]() |
- | 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 | 215654![]() |
18 | Chinese (China) | Diarrhea | Immunodeficiency, common variable, 14 | PMID:37350971 [Patient(II.1)]; PMID:37876937 [Fam.E:II.1(E.1)] |
105151 | M | 215654![]() |
- | 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 | 215666![]() |
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 | 215666![]() |
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 | 215666![]() |
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 | 215671![]() |
- | 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 | 215671![]() |
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 | 215686![]() |
- | 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 | 215692![]() |
- | 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 | 215701![]() |
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 | 215701![]() |
- | 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 | 215762![]() |
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 | 215765![]() |
- | Caucasian | Malabsorption | NFKB1 insufficiency | PMID:150198 [Fam.BO:II.2(308)]; PMID:30761159 [Fam.1:II.2(patient)] |
105463 | M | 215772![]() |
- | 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 | 215837![]() |
- | Spanish | Celiac disease | NFKB1 insufficiency | PMID:32278790 [Fam.AF:II.1(II.1)]; PMID:150198 [Fam.BY:II.1(363)] |
105714 | M | 211370![]() |
- | 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 | 215876![]() |
- | 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 | 215881![]() |
0 | Pakistani | Diarrhea | Combined immunodeficiency 41 | PMID:32980423 [Fam.1:V.2(1.V.2)]; PMID:150198 [Fam.DS:V.2(506)] |
105812 | M | 215881![]() |
- | Pakistani | Diarrhea | PMID:32980423 [Fam.1:III.3(1.III.3)]; PMID:150198 [Fam.DS:III.3(496)] | |
105824 | M | 215834![]() |
- | 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 | 211470![]() |
- | Inflammation of the large intestine | PMID:33486103 [Fam.1:II.4(sister2)]; PMID:150198 [Fam.DT:II.4(513)] | ||
105850 | F | 215891![]() |
- | 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 | 215893![]() |
- | Enteropathy | Autoinflammation, immune dysregulation, and eosinophilia | PMID:33864888 [S170(II.1)] | |
105859 | F | 215894![]() |
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 | 215901![]() |
- | 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 | 215921![]() |
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 | 215951![]() |
- | 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 | 215974![]() |
- | 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 | 215974![]() |
- | Finnish | Diarrhea | NFKB1 insufficiency | PMID:150198 [Fam.FL:IV.3(683)]; PMID:36356849 [Fam.1:IV.3(F1:IV:3)] |
106209 | F | 215975![]() |
- | Finnish | Diarrhea | NFKB1 insufficiency | PMID:150198 [Fam.FM:III.3(694)]; PMID:36356849 [Fam.2:III.3(F2:III:3)] |
106223 | M | 215976![]() |
- | 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 | 215979![]() |
- | Caucasian | Inflammation of the large intestine | PMID:150198 [Fam.FZ:II.3(791)]; PMID:38593810 [Fam.6:I.3] | |
106304 | M | 215981![]() |
-,- | 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 | 215771![]() |
2 | Caucasian | Diarrhea | NFKB1 insufficiency | PMID:150198 [Fam.BV:III.1(346)]; PMID:36105815 [Fam.R157P:III.1(S8's daugther)] |
106323 | M | 215985![]() |
16 | Diarrhea | NFKB1 insufficiency | PMID:150198 [Fam.EZ:II.1(612)]; PMID:36105815 [Fam.R284P:II.1(R284P/1)] | |
106330 | F | 215987![]() |
- | Italian | Enteropathy | NFKB1 insufficiency | PMID:150198 [Fam.FR:II.2(733)]; PMID:37600787 [Fam.1:II.2(mother)] |
106332 | F | 215988![]() |
- | 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 | 215999![]() |
- | 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 | 216001![]() |
- | 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 | 216006![]() |
- | German | Enteritis | PMID:36273440 [Fam.III.3:III.1] | |
106402 | F | 216006![]() |
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 | 216013![]() |
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 | 216078![]() |
- | Caucasian | Diarrhea | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.A:II.1(P1)]; PMID:25075845 [Fam.1:II.2(Young-bro)] |
106558 | M | 216078![]() |
- | Caucasian | Diarrhea | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.A:II.2(P2)]; PMID:25075845 [Fam.1:II.1(Old-bro)] |
106577 | F | 216081![]() |
- | Caucasian | Diarrhea | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.D:II.2(P6)] |
106581 | F | 216082![]() |
- | 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 | 216087![]() |
- | French | Diarrhea | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.1:I.2(P1)] |
106599 | M | 216087![]() |
- | French | Diarrhea | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.1:II.1(P2)] |
106600 | M | 216087![]() |
- | French | Diarrhea | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.1:II.2(P3)] |
106604 | M | 216088![]() |
- | Afro-American | Inflammation of the large intestine | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.2:II.4(P7)] |
106618 | F | 216090![]() |
- | Ashkenazi Jewish | Inflammation of the large intestine | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.3:II.1(P9)] |
106622 | M | 216091![]() |
- | Ashkenazi Jewish | Diarrhea | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.4:II.1(P11)] |
106625 | F | 216092![]() |
- | Admixed | Diarrhea | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.5:II.2(P13)] |
106630 | M | 216093![]() |
- | 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 | 216096![]() |
- | 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 | 216124![]() |
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 | 216173![]() |
1 | Caucasian | Intestinal perforation | Adenosine deaminase 2 deficiency | PMID:31008556 [Fam.5:II.1(P5)] |
106857 | F | 216173![]() |
- | 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 | 216189![]() |
- | 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 | 216330![]() |
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 | 216333![]() |
6 | Japanese | Inflammation of the large intestine | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [Fam.4:P4.1] |
107103 | M | 216335![]() |
- | 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 | 216339![]() |
- | 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 | 216364![]() |
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 | 216381![]() |
0 | Vietnamese | Diarrhea | Hemophagocytic lymphohistiocytosis, familial 5 | PMID:36503158 [Patient(III.3)] |
107245 | M | 216394![]() |
2 | Caucasian | Celiac disease | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30809743 [Fam.2:II.1(Pt#2)] |
107249 | F | 216398![]() |
- | 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).