MCID: ATM020
MIFTS: 34

Autoimmune Enteropathy

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Autoimmune Enteropathy

MalaCards integrated aliases for Autoimmune Enteropathy:

Name: Autoimmune Enteropathy 20 71

Classifications:



External Ids:

UMLS 71 C0341305

Summaries for Autoimmune Enteropathy

MalaCards based summary : Autoimmune Enteropathy is related to immunodeficiency 31c and immunodeficiency 41 with lymphoproliferation and autoimmunity. An important gene associated with Autoimmune Enteropathy is USH1C (USH1 Protein Network Component Harmonin), and among its related pathways/superpathways are Measles and Allograft rejection. The drugs Lenograstim and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include small intestine, t cells and bone marrow, and related phenotypes are digestive/alimentary and hematopoietic system

Wikipedia : 74 Autoimmune enteropathy (AIE) is a rare disorder of the immune system condition that affects infants,... more...

Related Diseases for Autoimmune Enteropathy

Diseases in the Autoimmune Enteropathy family:

Primary Autoimmune Enteropathy

Diseases related to Autoimmune Enteropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 167)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency 31c 32.2 IL2RA FOXP3
2 immunodeficiency 41 with lymphoproliferation and autoimmunity 32.1 IL2RA FOXP3
3 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 32.0 USH1C IL2RA IL17A FOXP3
4 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.5 IL17A FOXP3
5 celiac disease 1 30.2 STAT3 IL2RA IL17A FOXP3
6 red cell aplasia 30.0 STAT3 IL2RA
7 common variable immunodeficiency 29.9 STAT3 IL2RA FOXP3
8 colitis 29.8 STAT3 IL17A FOXP3
9 cutaneous lupus erythematosus 29.4 IL17A ICAM1
10 lymphopenia 29.4 ITGAL IL2RA FOXP3
11 autoimmune disease 29.2 STAT3 ITGAL IL2RA IL17A FOXP3
12 dermatitis 29.1 STAT3 IL17A ICAM1 FOXP3
13 immune deficiency disease 29.1 ITGAL IL2RA IL17A FOXP3
14 arthritis 29.1 STAT3 IL17A ICAM1 FOXP3
15 crohn's disease 28.9 STAT3 IL2RA IL17A ICAM1 FOXP3
16 skin disease 28.7 ITGAL IL17A ICAM1 FOXP3
17 rheumatoid arthritis 28.5 ITGAL IL2RA IL17A ICAM1 FOXP3
18 inflammatory bowel disease 28.4 STAT3 ITGAL IL2RA IL17A ICAM1 FOXP3
19 severe immune-mediated enteropathy 11.3
20 autoimmune disease, multisystem, infantile-onset, 1 11.2
21 candidiasis, familial, 6 11.1
22 syndromic autoimmune enteropathy 11.1
23 primary autoimmune enteropathy 11.1
24 diarrhea 10.5
25 polyendocrinopathy 10.4
26 t-cell adult acute lymphocytic leukemia 10.2 IL2RA FOXP3
27 hypersplenism 10.2 IL2RA FOXP3
28 pure red-cell aplasia 10.2 STAT3 IL2RA
29 t-cell large granular lymphocyte leukemia 10.2 STAT3 IL2RA
30 thymoma, familial 10.1
31 secretory diarrhea 10.1
32 thymoma 10.1
33 refractory celiac disease 10.1
34 cutaneous candidiasis 10.1 IL2RA IL17A
35 parametritis 10.1 STAT3 ICAM1
36 pollen allergy 10.1 ICAM1 FOXP3
37 autoimmune polyendocrine syndrome 10.1
38 thyroiditis 10.1
39 dacryoadenitis 10.1 IL17A FOXP3
40 cystic echinococcosis 10.1 IL2RA IL17A
41 milk allergy 10.1 FOXP3 CSN1S1
42 autoimmune disease of eyes, ear, nose and throat 10.0 IL17A FOXP3
43 hyper ige recurrent infection syndrome 1 10.0 STAT3 IL17A
44 mycetoma 10.0 IL17A CSN1S1
45 crescentic glomerulonephritis 10.0 IL2RA ICAM1
46 autoimmune disease of exocrine system 10.0 IL17A FOXP3
47 sezary's disease 10.0 STAT3 IL2RA FOXP3
48 nail disease 10.0 STAT3 IL17A
49 autoimmune polyendocrine syndrome type 1 10.0 IL17A FOXP3
50 dermatitis herpetiformis 10.0 IL17A FOXP3

Graphical network of the top 20 diseases related to Autoimmune Enteropathy:



Diseases related to Autoimmune Enteropathy

Symptoms & Phenotypes for Autoimmune Enteropathy

MGI Mouse Phenotypes related to Autoimmune Enteropathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.63 FOXP3 ICAM1 IL17A IL2RA STAT3 USH1C
2 hematopoietic system MP:0005397 9.56 FOXP3 ICAM1 IL17A IL2RA ITGAL LNX1
3 immune system MP:0005387 9.23 FOXP3 ICAM1 IL17A IL2RA ITGAL LNX1

Drugs & Therapeutics for Autoimmune Enteropathy

Drugs for Autoimmune Enteropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lenograstim Approved, Investigational Phase 2 135968-09-1
2
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
3 Immunosuppressive Agents Phase 2
4 Immunologic Factors Phase 2
5 Antirheumatic Agents Phase 2
6 Alkylating Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 High-Dose Cyclophosphamide for the Treatment of Severe Autoimmune Enteropathy Completed NCT00258180 Phase 2 cyclophosphamide

Search NIH Clinical Center for Autoimmune Enteropathy

Genetic Tests for Autoimmune Enteropathy

Anatomical Context for Autoimmune Enteropathy

MalaCards organs/tissues related to Autoimmune Enteropathy:

40
Small Intestine, T Cells, Bone Marrow, Spleen, Colon, Myeloid, Monocytes

Publications for Autoimmune Enteropathy

Articles related to Autoimmune Enteropathy:

(show top 50) (show all 320)
# Title Authors PMID Year
1
An updated overview on celiac disease: from immuno-pathogenesis and immuno-genetics to therapeutic implications. 61
33472447 2021
2
A Patient With AIRE Mutation Who Presented With Severe Diarrhea and Lung Abscess. 61
33284251 2021
3
Gliadin, through the Activation of Innate Immunity, Triggers lncRNA NEAT1 Expression in Celiac Disease Duodenal Mucosa. 61
33525473 2021
4
A case of autoimmune enteropathy with CTLA4 haploinsufficiency. 61
33476510 2021
5
The role of histopathology in the diagnosis and management of coeliac disease and other malabsorptive conditions. 61
33382496 2021
6
Successful Treatment of Refractory Autoimmune Enteropathy With Ustekinumab. 61
33457439 2021
7
CHRONIC DIARRHEA DUE TO AUTOIMMUNE ENTEROPATHY. 61
33256418 2020
8
Alterations in One-Carbon Metabolism in Celiac Disease. 61
33276620 2020
9
Evaluation of Daily Lives of Children and Adolescents with Celiac Disease and Nursing Approaches. 61
33259438 2020
10
A Review of Autoimmune Enteropathy and Its Associated Syndromes. 61
32833153 2020
11
Isolated Intestine Transplantation for Autoimmune Enteropathy: A Case Report. 61
32854966 2020
12
Lymphocytic Colitis With Increased Apoptosis: A Marker of Mutation in T-Cell-Mediated Immunity? 61
32955408 2020
13
Duodenal bulb biopsy in the diagnostic work-up of coeliac disease. 61
32405928 2020
14
Novel Therapeutic Strategies for Celiac Disease. 61
33564379 2020
15
Celiac disease in children: Increasing prevalence and changing clinical presentations. 61
33091973 2020
16
Serological screening for celiac disease in adults in Japan: Shimane CoHRE study. 61
32782937 2020
17
Abnormalities in metabolic pathways in celiac disease investigated by the metabolic profiling of small intestinal mucosa, blood plasma and urine by NMR spectroscopy. 61
32394522 2020
18
Ancestral Wheat Types Release Fewer Celiac Disease Related T Cell Epitopes than Common Wheat upon Ex Vivo Human Gastrointestinal Digestion. 61
32854283 2020
19
Celiac disease serology and gut microbiome following proton pump inhibitor treatment. 61
32871870 2020
20
Prenatal Autoimmune Disease, Multisystem, Infantile Onset-like Phenotype and Proximal Renal Tubular Dysplasia Associated With STAT3 Mutation. 61
31771449 2020
21
En mann i 50-årene med kronisk diaré og vekttap. 61
32815334 2020
22
Neuroendocrine Cells Are Commonly Absent in the Intestinal Crypts in Autoimmune Enteropathy. 61
32590456 2020
23
[New mutation in FOXP3 gene identified in an infant with chronic diarrhea as manifestation of autoinmune enteropathy - IPEX syndrome]. 61
33399737 2020
24
Celiac Disease Nutritional Status and Poor Adherence to Follow-up. 61
32207323 2020
25
[Autoimmune enteropathy in adults : A rare and difficult but relevant differential diagnosis of chronic diarrhea]. 61
32239324 2020
26
Advances in understanding the potential therapeutic applications of gut microbiota and probiotic mediated therapies in celiac disease. 61
32216476 2020
27
Cryptococcal pneumonia in an adolescent with a gain-of-function variant in signal transduction and activator of transcription 1 (STAT1). 61
32327459 2020
28
Defective spleen function in autoimmune gastrointestinal disorders. 61
31214883 2020
29
Celiac Disease, Gluten-Free Diet, and Metabolic and Liver Disorders. 61
32231050 2020
30
A Probiotic Preparation Hydrolyzes Gliadin and Protects Intestinal Cells from the Toxicity of Pro-Inflammatory Peptides. 61
32075195 2020
31
Seroprevalence of Antitransglutaminase and Antiendomysium Antibodies in Adult Colombian Blood Bank Donors. 61
33335872 2020
32
Pathogenesis of Celiac Disease and Other Gluten Related Disorders in Wheat and Strategies for Mitigating Them. 61
32118025 2020
33
Invasive Thymoma with Right Upper Lobe Endobronchial Lesion and Autoimmune Enteropathy. 61
32637181 2020
34
Oral fecal microbiota transplant for recurrent Clostridium difficile in pediatric autoimmune enteropathy. 61
31688252 2019
35
Using Adalimumab to Treat Autoimmune Enteropathy. 61
32309471 2019
36
Clinical manifestations and gastrointestinal pathology in 40 patients with autoimmune enteropathy. 61
31279857 2019
37
Seronegative Adult Autoimmune Enteropathy in a Patient With Rheumatoid Arthritis. 61
31832466 2019
38
E40, a novel microbial protease efficiently detoxifying gluten proteins, for the dietary management of gluten intolerance. 61
31511534 2019
39
The Skin in Celiac Disease Patients: The Other Side of the Coin. 61
31505858 2019
40
Coeliac disease in Caucasian and South Asian patients in the North West of England. 61
30891843 2019
41
Genetic and Environmental Contributors for Celiac Disease. 61
31321608 2019
42
Consideration of Maternal Anti-enterocyte IgA Transfer With Resulting Infantile Alloimmune Enteropathy. 61
31616766 2019
43
Demystifying autoimmune small bowel enteropathy. 61
30747741 2019
44
Stimulus Sensitive Foot Myoclonus: A Clue to Coeliac Disease. 61
31061841 2019
45
Autoimmune Enteropathy: An Updated Review with Special Focus on Stem Cell Transplant Therapy. 61
30415406 2019
46
Management of celiac disease in daily clinical practice. 61
30528262 2019
47
Nondietary Therapies for Celiac Disease. 61
30711207 2019
48
Technological Quality and Nutritional Value of Two Durum Wheat Varieties Depend on Both Genetic and Environmental Factors. 61
30742427 2019
49
Adult-onset autoimmune-type enteropathy: potential relationship to an adverse drug reaction. 61
31875138 2019
50
Variable Immunogenic Potential of Wheat: Prospective for Selection of Innocuous Varieties for Celiac Disease Patients via in vitro Approach. 61
30804930 2019

Variations for Autoimmune Enteropathy

Expression for Autoimmune Enteropathy

Search GEO for disease gene expression data for Autoimmune Enteropathy.

Pathways for Autoimmune Enteropathy

Pathways related to Autoimmune Enteropathy according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.44 STAT3 ITGAL IL2RA ICAM1
2
Show member pathways
12.3 ITGAL IL2RA IL17A ICAM1 FOXP3
3
Show member pathways
12.16 STAT3 IL2RA IL17A FOXP3
4 12.07 STAT3 IL2RA IL17A FOXP3
5 12.01 ITGAL IL2RA ICAM1
6 11.64 STAT3 IL17A ICAM1
7 11.51 ITGAL IL17A ICAM1
8 11.28 ITGAL ICAM1
9 11.27 STAT3 ICAM1
10 11.24 STAT3 IL2RA
11
Show member pathways
11.23 STAT3 IL17A ICAM1 FOXP3
12 11.22 IL2RA FOXP3
13 11.19 STAT3 ICAM1
14 11.18 ITGAL ICAM1
15
Show member pathways
11.17 STAT3 IL2RA
16
Show member pathways
11.07 IL2RA FOXP3
17
Show member pathways
10.94 STAT3 IL2RA
18 10.9 STAT3 IL2RA
19 10.74 ITGAL IL2RA ICAM1 FOXP3

GO Terms for Autoimmune Enteropathy

Biological processes related to Autoimmune Enteropathy according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.56 STAT3 ITGAL IL2RA IL17A
2 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.49 ITGAL ICAM1
3 negative regulation of T cell proliferation GO:0042130 9.48 IL2RA FOXP3
4 leukocyte cell-cell adhesion GO:0007159 9.46 ITGAL ICAM1
5 cytokine-mediated signaling pathway GO:0019221 9.46 STAT3 IL2RA IL17A ICAM1
6 T cell homeostasis GO:0043029 9.43 IL2RA FOXP3
7 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.4 STAT3 IL17A
8 regulation of regulatory T cell differentiation GO:0045589 9.37 IL2RA FOXP3
9 negative regulation of immune response GO:0050777 9.32 IL2RA FOXP3
10 negative regulation of lymphocyte proliferation GO:0050672 8.96 IL2RA FOXP3
11 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell GO:0002291 8.62 ITGAL ICAM1

Sources for Autoimmune Enteropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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