MCID: ATM020
MIFTS: 39

Autoimmune Enteropathy

Categories: Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Autoimmune Enteropathy

MalaCards integrated aliases for Autoimmune Enteropathy:

Name: Autoimmune Enteropathy 54 74

Classifications:



External Ids:

UMLS 74 C0341305

Summaries for Autoimmune Enteropathy

MalaCards based summary : Autoimmune Enteropathy is related to rheumatoid arthritis and primary autoimmune enteropathy. An important gene associated with Autoimmune Enteropathy is IL2RA (Interleukin 2 Receptor Subunit Alpha), and among its related pathways/superpathways are TGF-Beta Pathway and Th17 cell differentiation. The drugs Budesonide and Hormones, Hormone Substitutes, and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and t cells, and related phenotypes are hematopoietic system and digestive/alimentary

Wikipedia : 77 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 76)
# Related Disease Score Top Affiliating Genes
1 rheumatoid arthritis 28.6 FOXP3 ICAM1 IL17A IL2RA ITGAL
2 primary autoimmune enteropathy 12.2
3 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 11.9
4 immunodeficiency 41 with lymphoproliferation and autoimmunity 11.3
5 autoimmune disease, multisystem, infantile-onset, 1 11.3
6 immunodeficiency 31c 11.2
7 large granular lymphocyte leukemia 10.3 IL2RA STAT3
8 pure red-cell aplasia 10.3 IL2RA STAT3
9 hypersplenism 10.2 FOXP3 IL2RA
10 radiculopathy 10.2 IL17A IL2RA
11 stromal keratitis 10.1 IL17A IL2RA
12 lichen disease 10.1 FOXP3 ICAM1
13 colitis 10.1
14 autoimmune disease of eyes, ear, nose and throat 10.1 FOXP3 IL17A
15 pollen allergy 10.1 FOXP3 ICAM1
16 autoimmune disease of endocrine system 10.1 FOXP3 ICAM1
17 alopecia areata 10.1 ICAM1 IL2RA
18 amebiasis 10.1 ICAM1 IL17A
19 autoimmune optic neuritis 10.1 FOXP3 IL17A
20 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1 FOXP3 IL17A
21 vogt-koyanagi-harada disease 10.1 IL17A IL2RA
22 leukocyte adhesion deficiency, type i 10.1 ICAM1 IL17A
23 thymoma, familial 10.1
24 hepatitis 10.1
25 thymoma 10.1
26 autoimmune polyendocrine syndrome 10.1 FOXP3 IL17A
27 extrinsic cardiomyopathy 10.0 ICAM1 IL17A
28 pulmonary sarcoidosis 10.0 ICAM1 IL2RA
29 autoimmune uveitis 10.0 ICAM1 IL17A
30 chronic mucocutaneous candidiasis 10.0 IL17A IL2RA STAT3
31 tropical spastic paraparesis 10.0 FOXP3 IL17A IL2RA
32 autoimmune disease of musculoskeletal system 10.0 FOXP3 IL17A
33 thrombophilia due to thrombin defect 10.0
34 celiac disease 1 10.0
35 lymphoma 10.0
36 thrombosis 10.0
37 diarrhea 10.0
38 vasculitis 10.0
39 enteropathy-associated t-cell lymphoma 10.0
40 uveitis 9.9 ICAM1 IL17A IL2RA
41 lymphocytic vasculitis 9.9 ICAM1 ITGAL
42 intestinal disease 9.9 FOXP3 IL17A STAT3
43 actinic prurigo 9.9 ICAM1 ITGAL
44 gastrointestinal system disease 9.9 FOXP3 IL17A STAT3
45 inflammatory bowel disease 9.9 FOXP3 IL17A STAT3
46 autoimmune disease of central nervous system 9.9 FOXP3 ICAM1 IL17A
47 upper respiratory tract disease 9.9 FOXP3 ICAM1 IL17A
48 relapsing-remitting multiple sclerosis 9.9 FOXP3 ICAM1 IL17A
49 allergic contact dermatitis 9.9 ICAM1 IL17A
50 dermatitis, atopic 9.9 FOXP3 ICAM1 IL17A

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.86 FOXP3 ICAM1 IL17A IL2RA ITGAL LNX1
2 digestive/alimentary MP:0005381 9.8 FOXP3 ICAM1 IL17A IL2RA STAT3 USH1C
3 homeostasis/metabolism MP:0005376 9.7 FOXP3 ICAM1 IL17A IL2RA ITGAL STAT3
4 immune system MP:0005387 9.5 FOXP3 ICAM1 IL17A IL2RA ITGAL LNX1
5 vision/eye MP:0005391 9.02 FOXP3 ICAM1 IL2RA STAT3 USH1C

Drugs & Therapeutics for Autoimmune Enteropathy

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Budesonide Approved Phase 4 51333-22-3 5281004 63006
2 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
3 Hormones Phase 4
4 Respiratory System Agents Phase 4
5 Bronchodilator Agents Phase 4
6 glucocorticoids Phase 4
7 Anti-Inflammatory Agents Phase 4
8 Anti-Asthmatic Agents Phase 4
9 Hormone Antagonists Phase 4
10 Peripheral Nervous System Agents Phase 4
11 Autonomic Agents Phase 4
12
Lenograstim Approved, Investigational Phase 2 135968-09-1
13
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
14 Adjuvants, Immunologic Phase 2
15 Antineoplastic Agents, Alkylating Phase 2
16 Alkylating Agents Phase 2
17 Immunosuppressive Agents Phase 2
18 Immunologic Factors Phase 2
19 Antirheumatic Agents Phase 2
20 Nutrients

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Budesonide in Patients With Immune Mediated Enteropathies Recruiting NCT03866538 Phase 4 Withdrawal of Oral Budesonide
2 Cyclophosphamide in Treating Young Patients With Severe Autoimmune Enteropathy Completed NCT00258180 Phase 2 cyclophosphamide
3 Dietary Assessment and Mycotoxin Exposure in Celiac Disease Unknown status NCT01975155
4 Enteroscopy for Early Diagnosis of Tumors in Celiac Disease Unknown status NCT02325232 Not Applicable
5 Comparison Between Axial- and Lateral-viewing Capsule Endoscopy in Celiac Disease Unknown status NCT03095573 Not Applicable

Search NIH Clinical Center for Autoimmune Enteropathy

Genetic Tests for Autoimmune Enteropathy

Anatomical Context for Autoimmune Enteropathy

MalaCards organs/tissues related to Autoimmune Enteropathy:

42
Skin, Thyroid, T Cells, Kidney, Bone, Heart, Eye

Publications for Autoimmune Enteropathy

Articles related to Autoimmune Enteropathy:

(show top 50) (show all 83)
# Title Authors Year
1
Autoimmune Enteropathy: An Updated Review with Special Focus on Stem Cell Transplant Therapy. ( 30415406 )
2019
2
Features of Adult Autoimmune Enteropathy Compared With Refractory Celiac Disease. ( 29307846 )
2018
3
Intestinal T-cell lymphoma with enteropathy-associated T-cell lymphoma-like features arising in the setting of adult autoimmune enteropathy. ( 29446107 )
2018
4
Autoimmune Enteropathy in an Ulcerative Colitis Patient. ( 30465008 )
2018
5
New Treatment Option for Autoimmune Enteropathy: A Rare Case of Intractable Diarrhea Treated with Vedolizumab. ( 30775395 )
2018
6
Adult autoimmune enteropathy presenting initially with acquired Acrodermatitis Enteropathica: a case report. ( 28521835 )
2017
7
Autoimmune enteropathy and hepatitis in pediatric heart transplant recipient. ( 28097735 )
2017
8
Seronegative Adult Autoimmune Enteropathy in a Male Traveler. ( 28184376 )
2017
9
A Mysterious DRESS Case: Autoimmune Enteropathy Associated with DRESS Syndrome. ( 29333302 )
2017
10
Diffuse Autoimmune Enteropathy and Colopathy in an Adult Patient Successfully Treated With Adalimumab and a Review of the Literature. ( 25379737 )
2016
11
A Difficult and Rare Diagnosis of Autoimmune Enteropathy in a Patient Affected by Down Syndrome. ( 27072857 )
2016
12
Autoimmune enteropathy: not all flat mucosa mean coeliac disease. ( 27099674 )
2016
13
Uncontrolled IL-17 Production by Intraepithelial Lymphocytes in a Case of non-IPEX Autoimmune Enteropathy. ( 27415620 )
2016
14
Severe Malabsorption Refractory to Pancreatic Enzyme Supplementation Unmasking Autoimmune Enteropathy in a Chronic Pancreatitis Patient. ( 27518366 )
2016
15
Isolated autoimmune enteropathy associated with autoantibodies to a novel 28-kDa duodenal antigen. ( 23969534 )
2015
16
Gastrointestinal Disorder Associated with Olmesartan Mimics Autoimmune Enteropathy. ( 26101883 )
2015
17
Wireless capsule endoscopy as a tool in diagnosing autoimmune enteropathy. ( 26150615 )
2015
18
Abatacept: a new treatment option for refractory adult autoimmune enteropathy. ( 24045285 )
2014
19
Pediatric autoimmune enteropathy: an entity frequently associated with immunodeficiency disorders. ( 24051695 )
2014
20
Autoimmune enteropathy in a 13-year-old celiac girl successfully treated with infliximab. ( 24504079 )
2014
21
Glutamine-supplemented parenteral nutrition and probiotics in four adult autoimmune enteropathy patients. ( 24827631 )
2014
22
Gastrointestinal biopsy findings of autoimmune enteropathy: a review of 25 cases. ( 25188868 )
2014
23
Recalcitrant hypocalcaemia in autoimmune enteropathy. ( 25404718 )
2014
24
Enteropathy-associated T-cell lymphoma complicating an autoimmune enteropathy. ( 22226659 )
2012
25
Autoimmune enteropathy: a review and update of clinical management. ( 22810979 )
2012
26
Mesenchymal stromal cell infusions as rescue therapy for corticosteroid-refractory adult autoimmune enteropathy. ( 22958995 )
2012
27
Autoimmune enteropathy with a CD8+ CD7- T-cell small bowel intraepithelial lymphocytosis: case report and literature review. ( 22126605 )
2011
28
Autoimmune enteropathy associated with cessation of interferon-alpha therapy in chronic hepatitis C. ( 19639409 )
2010
29
Differential mucosal IL-17 expression in two gliadin-induced disorders: gluten sensitivity and the autoimmune enteropathy celiac disease. ( 19940509 )
2010
30
Cerebral venous thrombosis in autoimmune enteropathy. ( 20186248 )
2010
31
Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy. ( 20537998 )
2010
32
Autoimmune enteropathy in children and adults. ( 19255930 )
2009
33
From autoimmune enteropathy to the IPEX (immune dysfunction, polyendocrinopathy, enteropathy, X-linked) syndrome. ( 19912978 )
2009
34
Anti-goblet cell antibodies for the diagnosis of autoimmune enteropathy? ( 19956142 )
2009
35
Bone marrow-derived mesenchymal stem cells ameliorate autoimmune enteropathy independently of regulatory T cells. ( 18420833 )
2008
36
Autoimmune enteropathy in Swedish children, 1985-2002: a call for strict diagnostic criteria. ( 18609171 )
2008
37
Clinical and molecular aspects of autoimmune enteropathy and immune dysregulation, polyendocrinopathy autoimmune enteropathy X-linked syndrome. ( 19122524 )
2008
38
Adult autoimmune enteropathy. ( 18300339 )
2008
39
Severe FOXP3+ and naïve T lymphopenia in a non-IPEX form of autoimmune enteropathy combined with an immunodeficiency. ( 17484867 )
2007
40
Adult autoimmune enteropathy: Mayo Clinic Rochester experience. ( 17683994 )
2007
41
Enteropathy with loss of enteroendocrine and paneth cells in a patient with immune dysregulation: a case of adult autoimmune enteropathy. ( 16613334 )
2006
42
Autoimmune enteropathy and rheumatoid arthritis: a new association in the field of autoimmunity. ( 16920048 )
2006
43
Association between thymoma and autoimmune enteropathy in adults. ( 16996380 )
2006
44
Management of severe refractory adult autoimmune enteropathy with infliximab and tacrolimus. ( 15785040 )
2005
45
Adult-onset autoimmune enteropathy in the setting of thymoma successfully treated with infliximab. ( 15906770 )
2005
46
Autoimmune enteropathy: molecular concepts. ( 15703687 )
2004
47
Induction of remission in a child with autoimmune enteropathy using mycophenolate mofetil. ( 12658040 )
2003
48
Remission of severe autoimmune enteropathy after treatment with high-dose cyclophosphamide. ( 12717089 )
2003
49
Autoimmune enteropathy and colitis in an adult patient. ( 12924654 )
2003
50
Autoimmune enteropathy. ( 12952510 )
2003

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
13.21 ICAM1 IL17A IL2RA ITGAL STAT3
2
Show member pathways
12.16 FOXP3 IL17A IL2RA STAT3
3
Show member pathways
12.09 FOXP3 ICAM1 IL17A IL2RA ITGAL
4 11.99 ICAM1 IL2RA ITGAL
5 11.97 FOXP3 IL17A IL2RA STAT3
6
Show member pathways
11.68 ICAM1 IL17A IL2RA STAT3
7 11.64 ICAM1 IL17A STAT3
8 11.42 ICAM1 ITGAL
9 11.39 ICAM1 IL17A ITGAL
10 11.26 ICAM1 STAT3
11 11.25 ICAM1 ITGAL
12 11.22 IL2RA STAT3
13
Show member pathways
11.2 IL2RA STAT3
14 11.19 FOXP3 IL2RA
15 11.15 ICAM1 ITGAL
16 11.14 ICAM1 STAT3
17
Show member pathways
10.92 IL2RA STAT3
18
Show member pathways
10.89 FOXP3 ICAM1 IL17A STAT3
19 10.88 IL2RA STAT3

GO Terms for Autoimmune Enteropathy

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

# Name GO ID Score Top Affiliating Genes
1 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules GO:0007157 9.46 ICAM1 ITGAL
2 cytokine-mediated signaling pathway GO:0019221 9.46 ICAM1 IL17A IL2RA STAT3
3 negative regulation of T cell proliferation GO:0042130 9.43 FOXP3 IL2RA
4 T cell homeostasis GO:0043029 9.4 FOXP3 IL2RA
5 leukocyte cell-cell adhesion GO:0007159 9.37 ICAM1 ITGAL
6 regulation of regulatory T cell differentiation GO:0045589 9.32 FOXP3 IL2RA
7 negative regulation of immune response GO:0050777 9.26 FOXP3 IL2RA
8 negative regulation of lymphocyte proliferation GO:0050672 8.96 FOXP3 IL2RA
9 T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell GO:0002291 8.62 ICAM1 ITGAL

Sources for Autoimmune Enteropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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