MCID: ATM020
MIFTS: 35

Autoimmune Enteropathy

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Autoimmune Enteropathy

MalaCards integrated aliases for Autoimmune Enteropathy:

Name: Autoimmune Enteropathy 52 71

Classifications:



External Ids:

UMLS 71 C0341305

Summaries for Autoimmune Enteropathy

MalaCards based summary : Autoimmune Enteropathy is related to immunodysregulation, polyendocrinopathy, and enteropathy, x-linked and alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity. An important gene associated with Autoimmune Enteropathy is IL2RA (Interleukin 2 Receptor Subunit Alpha), and among its related pathways/superpathways are Measles and Th17 cell differentiation. The drugs Budesonide and Respiratory System Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, skin and thyroid, 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 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 32.8 STAT3 IL2RA IL17A FOXP3
2 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.3 IL17A FOXP3
3 celiac disease 1 29.9 IL2RA IL17A FOXP3 CSN1S1
4 colitis 29.7 STAT3 IL17A FOXP3
5 common variable immunodeficiency 29.6 STAT3 IL2RA FOXP3
6 cutaneous lupus erythematosus 29.2 IL17A ICAM1
7 lymphopenia 29.2 ITGAL IL2RA FOXP3
8 autoimmune disease 28.9 STAT3 ITGAL IL2RA IL17A FOXP3
9 arthritis 28.8 STAT3 IL17A ICAM1 FOXP3
10 allergic hypersensitivity disease 28.8 IL17A ICAM1 FOXP3 CSN1S1
11 rheumatoid arthritis 28.0 ITGAL IL2RA IL17A ICAM1 FOXP3
12 syndromic autoimmune enteropathy 12.3
13 primary autoimmune enteropathy 12.3
14 severe immune-mediated enteropathy 11.7
15 immunodeficiency 41 with lymphoproliferation and autoimmunity 11.4
16 autoimmune disease, multisystem, infantile-onset, 1 11.4
17 candidiasis, familial, 6 11.3
18 immunodeficiency 31c 11.3
19 diarrhea 10.6
20 polyendocrinopathy 10.4
21 large granular lymphocyte leukemia 10.3 STAT3 IL2RA
22 red cell aplasia 10.3 STAT3 IL2RA
23 pure red-cell aplasia 10.2 STAT3 IL2RA
24 hypersplenism 10.2 IL2RA FOXP3
25 t-cell large granular lymphocyte leukemia 10.2 STAT3 IL2RA
26 cutaneous candidiasis 10.1 IL2RA IL17A
27 secretory diarrhea 10.1
28 refractory celiac disease 10.1
29 cow milk allergy 10.1 FOXP3 CSN1S1
30 milk allergy 10.1 FOXP3 CSN1S1
31 thymoma, familial 10.1
32 autoimmune polyendocrine syndrome 10.1
33 glomerulonephritis 10.1
34 thymoma 10.1
35 hyper ige recurrent infection syndrome 1 10.0 STAT3 IL17A
36 cystic echinococcosis 10.0 IL2RA IL17A
37 pollen allergy 10.0 ICAM1 FOXP3
38 sezary's disease 10.0 STAT3 IL2RA FOXP3
39 autoimmune disease of eyes, ear, nose and throat 10.0 IL17A FOXP3
40 mycetoma 10.0 IL17A CSN1S1
41 thrombophilia due to thrombin defect 10.0
42 membranous nephropathy 10.0
43 inflammatory diarrhea 10.0
44 lymphoma 10.0
45 thrombosis 10.0
46 nephrotic syndrome 10.0
47 neutropenia 10.0
48 candidiasis 10.0
49 gastritis 10.0
50 thyroiditis 10.0

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:

45
# 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 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Budesonide Approved Phase 4 51333-22-3 63006 5281004
2 Respiratory System Agents Phase 4
3 Hormones Phase 4
4 Hormone Antagonists Phase 4
5 Anti-Asthmatic Agents Phase 4
6 glucocorticoids Phase 4
7 Bronchodilator Agents Phase 4
8 Anti-Inflammatory Agents Phase 4
9
Lenograstim Approved, Investigational Phase 2 135968-09-1
10
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
11 Immunologic Factors Phase 2
12 Immunosuppressive Agents Phase 2
13 Alkylating Agents Phase 2
14 Antirheumatic Agents Phase 2
15 Nutrients
16 Immunoglobulins
17 Antibodies
18 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Open-label Withdrawal Trial of Budesonide in Patients With Immune Mediated Enteropathies Recruiting NCT03866538 Phase 4 Withdrawal of Oral Budesonide
2 High-Dose Cyclophosphamide for the Treatment of Severe Autoimmune Enteropathy Completed NCT00258180 Phase 2 cyclophosphamide
3 Dietary Assessment and Mycotoxin Exposure in Celiac Subjects Unknown status NCT01975155
4 Prospective Randomized Comparison Between Axial- and Lateral-viewing Capsule Endoscopy Systems in Celiac Patients: a Pilot Study Unknown status NCT03095573
5 A Capsule Endoscopy and Double Balloon Enteroscopy Sequential Approach for Early Detection of Gastrointestinal Tumors in Celiac Disease: a Prospective Trial Unknown status NCT02325232
6 The Investigation of Nutritional Status, Intestinal Permeability and Quality of Life in People With Celiac Disease Completed NCT04351828
7 Usefulness of Gluten-free Diet in Gluten-genetically Predisposed Subjects Positive to Intestinal-mucosa Anti-transglutaminase Antibodies Active, not recruiting NCT00677495
8 Pathogenic Study of Adult Immune Enteropathies Not yet recruiting NCT04280510

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
Kidney, Skin, Thyroid, Liver, T Cells, Small Intestine, Colon

Publications for Autoimmune Enteropathy

Articles related to Autoimmune Enteropathy:

(show top 50) (show all 299)
# Title Authors PMID Year
1
Celiac Disease Nutritional Status and Poor Adherence to Follow-up. 61
32207323 2020
2
Advances in understanding the potential therapeutic applications of gut microbiota and probiotic mediated therapies in celiac disease. 61
32216476 2020
3
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
4
[Autoimmune enteropathy in adults : A rare and difficult but relevant differential diagnosis of chronic diarrhea]. 61
32239324 2020
5
Duodenal bulb biopsy in the diagnostic work-up of coeliac disease. 61
32405928 2020
6
Cryptococcal pneumonia in an adolescent with a gain-of-function variant in signal transduction and activator of transcription 1 (STAT1). 61
32327459 2020
7
Defective spleen function in autoimmune gastrointestinal disorders. 61
31214883 2020
8
Celiac Disease, Gluten-Free Diet, and Metabolic and Liver Disorders. 61
32231050 2020
9
A Probiotic Preparation Hydrolyzes Gliadin and Protects Intestinal Cells from the Toxicity of Pro-Inflammatory Peptides. 61
32075195 2020
10
Pathogenesis of Celiac Disease and Other Gluten Related Disorders in Wheat and Strategies for Mitigating Them. 61
32118025 2020
11
Oral fecal microbiota transplant for recurrent Clostridium difficile in pediatric autoimmune enteropathy. 61
31688252 2019
12
Using Adalimumab to Treat Autoimmune Enteropathy. 61
32309471 2019
13
Prenatal Autoimmune Disease, Multisystem, Infantile Onset-like Phenotype and Proximal Renal Tubular Dysplasia Associated With STAT3 Mutation. 61
31771449 2019
14
Seronegative Adult Autoimmune Enteropathy in a Patient With Rheumatoid Arthritis. 61
31832466 2019
15
Clinical manifestations and gastrointestinal pathology in 40 patients with autoimmune enteropathy. 61
31279857 2019
16
E40, a novel microbial protease efficiently detoxifying gluten proteins, for the dietary management of gluten intolerance. 61
31511534 2019
17
The Skin in Celiac Disease Patients: The Other Side of the Coin. 61
31505858 2019
18
Coeliac disease in Caucasian and South Asian patients in the North West of England. 61
30891843 2019
19
Genetic and Environmental Contributors for Celiac Disease. 61
31321608 2019
20
Consideration of Maternal Anti-enterocyte IgA Transfer With Resulting Infantile Alloimmune Enteropathy. 61
31616766 2019
21
Demystifying autoimmune small bowel enteropathy. 61
30747741 2019
22
Stimulus Sensitive Foot Myoclonus: A Clue to Coeliac Disease. 61
31061841 2019
23
Autoimmune Enteropathy: An Updated Review with Special Focus on Stem Cell Transplant Therapy. 61
30415406 2019
24
Nondietary Therapies for Celiac Disease. 61
30711207 2019
25
Management of celiac disease in daily clinical practice. 61
30528262 2019
26
Technological Quality and Nutritional Value of Two Durum Wheat Varieties Depend on Both Genetic and Environmental Factors. 61
30742427 2019
27
Adult-onset autoimmune-type enteropathy: potential relationship to an adverse drug reaction. 61
31875138 2019
28
Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease. 61
31263572 2019
29
Are Viruses and Parasites Linked to Celiac Disease? A Question that Still has no Definite Answer. 61
31456516 2019
30
Variable Immunogenic Potential of Wheat: Prospective for Selection of Innocuous Varieties for Celiac Disease Patients via in vitro Approach. 61
30804930 2019
31
Probiotics in Celiac Disease. 61
30477107 2018
32
First Degree Relatives of Patients with Celiac Disease Harbour an Intestinal Transcriptomic Signature that Might Protect them from Enterocyte Damage. 61
30293993 2018
33
High rates of variation in HLA-DQ2/DQ8 testing for coeliac disease: results from an RCPAQAP pilot program. 61
29764931 2018
34
Prevalence of celiac disease among school-age children in Çorum, Turkey. 61
30260783 2018
35
Autoantibodies in the Extraintestinal Manifestations of Celiac Disease. 61
30127251 2018
36
Recommendations to report and interpret HLA genetic findings in coeliac disease. 61
29722267 2018
37
[Severe diarrhoea due to autoimmune enteropathy: Treatment and outcomes]. 61
28757190 2018
38
Anti-Inflammatory Biologics and Anti-Tumoral Immune Therapies-Associated Colitis: A Focused Review of Literature. 61
29915627 2018
39
Features of Adult Autoimmune Enteropathy Compared With Refractory Celiac Disease. 61
29307846 2018
40
Genetics, environment, and asthma associated with celiac disease in the extended family of an affected child. 61
29162372 2018
41
[The 462nd case: chronic watery diarrhea and acute kidney injury]. 61
29614595 2018
42
Intestinal T-cell lymphoma with enteropathy-associated T-cell lymphoma-like features arising in the setting of adult autoimmune enteropathy. 61
29446107 2018
43
Celiac disease in non-clinical populations of Japan. 61
28389733 2018
44
PREVALENCE OF CELIAC DISEASE PREDISPOSING GENOTYPES, INCLUDING HLA-DQ2.2 VARIANT, IN BRAZILIAN CHILDREN. 61
29561984 2018
45
Non-Celiac Gluten Sensitivity: A Challenging Diagnosis in Children with Abdominal Pain. 61
30783043 2018
46
Autoimmune Enteropathy in an Ulcerative Colitis Patient. 61
30465008 2018
47
New Treatment Option for Autoimmune Enteropathy: A Rare Case of Intractable Diarrhea Treated with Vedolizumab. 61
30775395 2018
48
Current Paediatric Coeliac Disease Screening Strategies and Relevance of Questionnaire Survey. 61
30056445 2018
49
Autoimmune enteropathies. 61
29022145 2018
50
Signal transducer and activator of transcription gain-of-function primary immunodeficiency/immunodysregulation disorders. 61
28914637 2017

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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.41 STAT3 ITGAL IL2RA ICAM1
2
Show member pathways
12.1 STAT3 IL2RA IL17A FOXP3
3
Show member pathways
12.1 ITGAL IL2RA IL17A ICAM1 FOXP3
4 11.99 ITGAL IL2RA ICAM1
5 11.97 STAT3 IL2RA IL17A FOXP3
6 11.6 STAT3 IL17A ICAM1
7 11.47 ITGAL IL17A ICAM1
8 11.27 ITGAL ICAM1
9 11.26 STAT3 ICAM1
10 11.23 STAT3 IL2RA
11 11.21 IL2RA FOXP3
12 11.18 STAT3 ICAM1
13 11.17 ITGAL ICAM1
14
Show member pathways
11.15 STAT3 IL2RA
15
Show member pathways
11.05 IL2RA FOXP3
16
Show member pathways
10.92 STAT3 IL2RA
17
Show member pathways
10.89 STAT3 IL17A ICAM1 FOXP3
18 10.88 STAT3 IL2RA

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 T cell homeostasis GO:0043029 9.46 IL2RA FOXP3
5 cytokine-mediated signaling pathway GO:0019221 9.46 STAT3 IL2RA IL17A ICAM1
6 leukocyte cell-cell adhesion GO:0007159 9.43 ITGAL ICAM1
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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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