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 53 73

Classifications:



External Ids:

UMLS 73 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 Cyclophosphamide and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and thyroid, and related phenotypes are hematopoietic system and digestive/alimentary

Wikipedia : 76 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 29.0 FOXP3 ICAM1 IL17A IL2RA ITGAL
2 primary autoimmune enteropathy 12.2
3 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 11.8
4 immunodeficiency 41 with lymphoproliferation and autoimmunity 11.2
5 autoimmune disease, multisystem, infantile-onset, 1 11.2
6 immunodeficiency 31c 11.2
7 large granular lymphocyte leukemia 10.2 IL2RA STAT3
8 htlv-1 associated myelopathy/tropical spastic paraparesis 10.2 FOXP3 IL2RA
9 pure red-cell aplasia 10.2 IL2RA STAT3
10 colitis 10.1
11 hyper-ige recurrent infection syndrome, autosomal dominant 10.1 IL17A STAT3
12 stromal keratitis 10.1 IL17A IL2RA
13 lichen disease 10.1 FOXP3 ICAM1
14 pollen allergy 10.1 FOXP3 ICAM1
15 autoimmune disease of eyes, ear, nose and throat 10.1 FOXP3 IL17A
16 autoimmune disease of endocrine system 10.1 FOXP3 ICAM1
17 amebiasis 10.1 ICAM1 IL17A
18 autoimmune optic neuritis 10.1 FOXP3 IL17A
19 vogt-koyanagi-harada disease 10.1 IL17A IL2RA
20 pulmonary sarcoidosis 10.1 ICAM1 IL2RA
21 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1 FOXP3 IL17A
22 leukocyte adhesion deficiency, type i 10.1 ICAM1 IL17A
23 hepatitis 10.0
24 thymoma 10.0
25 autoimmune polyendocrine syndrome 10.0 FOXP3 IL17A
26 extrinsic cardiomyopathy 10.0 ICAM1 IL17A
27 autoimmune uveitis 10.0 ICAM1 IL17A
28 autoimmune disease of musculoskeletal system 10.0 FOXP3 IL17A
29 chronic mucocutaneous candidiasis 10.0 IL17A IL2RA STAT3
30 tropical spastic paraparesis 10.0 FOXP3 IL17A IL2RA
31 allergic contact dermatitis 10.0 ICAM1 IL17A
32 alopecia areata 10.0 ICAM1 IL17A IL2RA
33 uveitis 10.0 ICAM1 IL17A IL2RA
34 lymphocytic vasculitis 10.0 ICAM1 ITGAL
35 intestinal disease 10.0 FOXP3 IL17A STAT3
36 actinic prurigo 10.0 ICAM1 ITGAL
37 thrombophilia due to thrombin defect 10.0
38 celiac disease 1 10.0
39 lymphoma 10.0
40 thrombosis 10.0
41 vasculitis 10.0
42 enteropathy-associated t-cell lymphoma 10.0
43 autoimmune disease of central nervous system 9.9 FOXP3 ICAM1 IL17A
44 upper respiratory tract disease 9.9 FOXP3 ICAM1 IL17A
45 food allergy 9.9 CSN1S1 FOXP3
46 relapsing-remitting multiple sclerosis 9.9 FOXP3 ICAM1 IL17A
47 immune system disease 9.9 FOXP3 ICAM1 IL17A
48 autoimmune disease of the nervous system 9.9 FOXP3 IL17A
49 mycosis fungoides 9.9 IL2RA ITGAL STAT3
50 lymphadenitis 9.9 ICAM1 STAT3

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 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 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2 6055-19-2, 50-18-0 2907
2
Lenograstim Approved, Investigational Phase 2 135968-09-1
3 Immunologic Factors Phase 2
4 Alkylating Agents Phase 2
5 Antineoplastic Agents, Alkylating Phase 2
6 Antirheumatic Agents Phase 2
7 Immunosuppressive Agents Phase 2

Interventional clinical trials:


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

41
Skin, Kidney, Thyroid, T Cells, Bone, Heart, Eye

Publications for Autoimmune Enteropathy

Articles related to Autoimmune Enteropathy:

(show top 50) (show all 82)
# Title Authors Year
1
Features of Adult Autoimmune Enteropathy Compared With Refractory Celiac Disease. ( 29307846 )
2018
2
Intestinal T-cell lymphoma with enteropathy-associated T-cell lymphoma-like features arising in the setting of adult autoimmune enteropathy. ( 29446107 )
2018
3
Autoimmune Enteropathy: An Updated Review with Special Focus on Stem Cell Transplant Therapy. ( 30415406 )
2018
4
Autoimmune Enteropathy in an Ulcerative Colitis Patient. ( 30465008 )
2018
5
Adult autoimmune enteropathy presenting initially with acquired Acrodermatitis Enteropathica: a case report. ( 28521835 )
2017
6
A Mysterious DRESS Case: Autoimmune Enteropathy Associated with DRESS Syndrome. ( 29333302 )
2017
7
Seronegative Adult Autoimmune Enteropathy in a Male Traveler. ( 28184376 )
2017
8
Autoimmune enteropathy and hepatitis in pediatric heart transplant recipient. ( 28097735 )
2017
9
A Difficult and Rare Diagnosis of Autoimmune Enteropathy in a Patient Affected by Down Syndrome. ( 27072857 )
2016
10
Uncontrolled IL-17 Production by Intraepithelial Lymphocytes in a Case of non-IPEX Autoimmune Enteropathy. ( 27415620 )
2016
11
Autoimmune enteropathy: not all flat mucosa mean coeliac disease. ( 27099674 )
2016
12
Severe Malabsorption Refractory to Pancreatic Enzyme Supplementation Unmasking Autoimmune Enteropathy in a Chronic Pancreatitis Patient. ( 27518366 )
2016
13
Wireless capsule endoscopy as a tool in diagnosing autoimmune enteropathy. ( 26150615 )
2015
14
Gastrointestinal Disorder Associated with Olmesartan Mimics Autoimmune Enteropathy. ( 26101883 )
2015
15
Glutamine-supplemented parenteral nutrition and probiotics in four adult autoimmune enteropathy patients. ( 24827631 )
2014
16
Gastrointestinal biopsy findings of autoimmune enteropathy: a review of 25 cases. ( 25188868 )
2014
17
Abatacept: a new treatment option for refractory adult autoimmune enteropathy. ( 24045285 )
2014
18
Diffuse Autoimmune Enteropathy and Colopathy in an Adult Patient Successfully Treated With Adalimumab and a Review of the Literature. ( 25379737 )
2014
19
Autoimmune enteropathy in a 13-year-old celiac girl successfully treated with infliximab. ( 24504079 )
2014
20
Recalcitrant hypocalcaemia in autoimmune enteropathy. ( 25404718 )
2014
21
Pediatric autoimmune enteropathy: an entity frequently associated with immunodeficiency disorders. ( 24051695 )
2013
22
A Case of Isolated Autoimmune Enteropathy Associated with Autoantibodies to a Novel 28 kilodalton Duodenal Antigen. ( 23969534 )
2013
23
Enteropathy-associated T-cell lymphoma complicating an autoimmune enteropathy. ( 22226659 )
2012
24
Autoimmune enteropathy: a review and update of clinical management. ( 22810979 )
2012
25
Mesenchymal stromal cell infusions as rescue therapy for corticosteroid-refractory adult autoimmune enteropathy. ( 22958995 )
2012
26
Autoimmune enteropathy with a CD8+ CD7- T-cell small bowel intraepithelial lymphocytosis: case report and literature review. ( 22126605 )
2011
27
Autoimmune enteropathy associated with cessation of interferon-alpha therapy in chronic hepatitis C. ( 19639409 )
2010
28
Cerebral venous thrombosis in autoimmune enteropathy. ( 20186248 )
2010
29
Differential mucosal IL-17 expression in two gliadin-induced disorders: gluten sensitivity and the autoimmune enteropathy celiac disease. ( 19940509 )
2010
30
Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy. ( 20537998 )
2010
31
Anti-goblet cell antibodies for the diagnosis of autoimmune enteropathy? ( 19956142 )
2009
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
Autoimmune enteropathy in Swedish children, 1985-2002: a call for strict diagnostic criteria. ( 18609171 )
2008
35
Clinical and molecular aspects of autoimmune enteropathy and immune dysregulation, polyendocrinopathy autoimmune enteropathy X-linked syndrome. ( 19122524 )
2008
36
Bone marrow-derived mesenchymal stem cells ameliorate autoimmune enteropathy independently of regulatory T cells. ( 18420833 )
2008
37
Adult autoimmune enteropathy. ( 18300339 )
2008
38
Adult autoimmune enteropathy: Mayo Clinic Rochester experience. ( 17683994 )
2007
39
Severe FOXP3+ and naA^ve T lymphopenia in a non-IPEX form of autoimmune enteropathy combined with an immunodeficiency. ( 17484867 )
2007
40
Autoimmune enteropathy and rheumatoid arthritis: a new association in the field of autoimmunity. ( 16920048 )
2006
41
Enteropathy with loss of enteroendocrine and paneth cells in a patient with immune dysregulation: a case of adult autoimmune enteropathy. ( 16613334 )
2006
42
Association between thymoma and autoimmune enteropathy in adults. ( 16996380 )
2006
43
Adult-onset autoimmune enteropathy in the setting of thymoma successfully treated with infliximab. ( 15906770 )
2005
44
Management of severe refractory adult autoimmune enteropathy with infliximab and tacrolimus. ( 15785040 )
2005
45
Autoimmune enteropathy: molecular concepts. ( 15703687 )
2004
46
Autoimmune enteropathy and colitis in an adult patient. ( 12924654 )
2003
47
Adult autoimmune enteropathy treated successfully with tacrolimus. ( 14581765 )
2003
48
Remission of severe autoimmune enteropathy after treatment with high-dose cyclophosphamide. ( 12717089 )
2003
49
Autoimmune enteropathy. ( 12952510 )
2003
50
Induction of remission in a child with autoimmune enteropathy using mycophenolate mofetil. ( 12658040 )
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 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.22 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 12.08 ICAM1 IL2RA ITGAL
5 11.97 FOXP3 IL17A IL2RA STAT3
6 11.91 ICAM1 ITGAL STAT3
7
Show member pathways
11.68 ICAM1 IL17A IL2RA STAT3
8 11.64 ICAM1 IL17A STAT3
9 11.39 ICAM1 IL17A ITGAL
10 11.34 ICAM1 ITGAL
11 11.27 ICAM1 STAT3
12 11.26 ICAM1 ITGAL
13 11.23 IL2RA STAT3
14
Show member pathways
11.21 IL2RA STAT3
15 11.2 FOXP3 IL2RA
16 11.17 ICAM1 ITGAL
17 11.15 ICAM1 STAT3
18
Show member pathways
10.94 IL2RA STAT3
19 10.9 IL2RA STAT3
20
Show member pathways
10.89 FOXP3 ICAM1 IL17A 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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