MCID: ATM020
MIFTS: 39

Autoimmune Enteropathy

Categories: Rare diseases, Gastrointestinal diseases

Aliases & Classifications for Autoimmune Enteropathy

MalaCards integrated aliases for Autoimmune Enteropathy:

Name: Autoimmune Enteropathy 49 69

Classifications:



External Ids:

UMLS 69 C0341305

Summaries for Autoimmune Enteropathy

MalaCards based summary : Autoimmune Enteropathy is related to alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity and rheumatoid arthritis. An important gene associated with Autoimmune Enteropathy is IL2RA (Interleukin 2 Receptor Subunit Alpha), and among its related pathways/superpathways are Allograft rejection and Th17 cell differentiation. The drugs Cyclophosphamide and Lenograstim have been mentioned in the context of this disorder. Affiliated tissues include skin, thyroid and kidney, and related phenotypes are hematopoietic system and digestive/alimentary

Wikipedia : 72 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:

Autoimmune Enteropathy Type 3 Autoimmune Enteropathy Type 2

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

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 31.1 FOXP3 IL17A
2 rheumatoid arthritis 28.3 FOXP3 ICAM1 IL17A ITGAL
3 autoimmune enteropathy type 3 12.0
4 autoimmune enteropathy type 2 12.0
5 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 11.2
6 immunodeficiency 41 with lymphoproliferation and autoimmunity 11.1
7 autoimmune disease, multisystem, infantile-onset, 1 11.1
8 immunodeficiency 31c 11.0
9 large granular lymphocyte leukemia 10.4 IL2RA STAT3
10 pure red-cell aplasia 10.3 IL2RA STAT3
11 cutaneous candidiasis 10.3 IL17A IL2RA
12 hypersplenism 10.3 FOXP3 IL2RA
13 radiculopathy 10.2 IL17A IL2RA
14 hyper-ige recurrent infection syndrome, autosomal dominant 10.2 IL17A STAT3
15 stromal keratitis 10.2 IL17A IL2RA
16 tropical spastic paraparesis 10.2 FOXP3 IL2RA
17 cytomegalovirus infection 10.2 ICAM1 IL2RA
18 pollen allergy 10.1 FOXP3 ICAM1
19 amebiasis 10.1 ICAM1 IL17A
20 lichen disease 10.1 FOXP3 ICAM1
21 autoimmune polyendocrine syndrome 10.1 FOXP3 IL17A
22 autoimmune disease of endocrine system 10.1 FOXP3 ICAM1
23 vogt-koyanagi-harada disease 10.1 IL17A IL2RA
24 chronic mucocutaneous candidiasis 10.0 IL17A IL2RA STAT3
25 common cold 10.0 ICAM1 IL17A
26 conjunctivitis 10.0 FOXP3 ICAM1
27 mastitis 10.0 ICAM1 IL17A
28 intestinal disease 10.0 FOXP3 IL17A STAT3
29 uveitis 9.9 ICAM1 IL17A IL2RA
30 thymoma, familial 9.9
31 hepatitis 9.9
32 colitis 9.9
33 thymoma 9.9
34 food allergy 9.9 CSN1S1 FOXP3
35 pulmonary sarcoidosis 9.9 ICAM1 IL2RA
36 lymphocytic vasculitis 9.9 ICAM1 ITGAL
37 relapsing-remitting multiple sclerosis 9.9 FOXP3 ICAM1 IL17A
38 actinic prurigo 9.9 ICAM1 ITGAL
39 thrombophilia due to thrombin defect 9.8
40 celiac disease 1 9.8
41 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 9.8
42 lymphoma 9.8
43 thrombosis 9.8
44 mucositis 9.8
45 vasculitis 9.8
46 enteropathy-associated t-cell lymphoma 9.8
47 mycosis fungoides 9.8 IL2RA ITGAL STAT3
48 autoimmune disease 9.7 FOXP3 IL17A IL2RA STAT3
49 down syndrome 9.7
50 acrodermatitis enteropathica, zinc-deficiency type 9.7

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.76 ITGAL LNX1 STAT3 USH1C FOXP3 ICAM1
2 digestive/alimentary MP:0005381 9.73 STAT3 USH1C FOXP3 ICAM1 IL17A IL2RA
3 immune system MP:0005387 9.5 ITGAL LNX1 STAT3 FOXP3 ICAM1 IL17A
4 vision/eye MP:0005391 9.02 STAT3 USH1C FOXP3 ICAM1 IL2RA

Drugs & Therapeutics for Autoimmune Enteropathy

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
2
Lenograstim Approved, Investigational Phase 2 135968-09-1
3 Alkylating Agents Phase 2
4 Immunosuppressive Agents Phase 2
5 Antirheumatic 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
4 Comparison Between Axial- and Lateral-viewing Capsule Endoscopy in Celiac Disease Recruiting NCT03095573

Search NIH Clinical Center for Autoimmune Enteropathy

Genetic Tests for Autoimmune Enteropathy

Anatomical Context for Autoimmune Enteropathy

MalaCards organs/tissues related to Autoimmune Enteropathy:

38
Skin, Thyroid, Kidney, T Cells, Heart, Bone

Publications for Autoimmune Enteropathy

Articles related to Autoimmune Enteropathy:

(show top 50) (show all 80)
# 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
Adult autoimmune enteropathy presenting initially with acquired Acrodermatitis Enteropathica: a case report. ( 28521835 )
2017
4
A Mysterious DRESS Case: Autoimmune Enteropathy Associated with DRESS Syndrome. ( 29333302 )
2017
5
Autoimmune enteropathy and hepatitis in pediatric heart transplant recipient. ( 28097735 )
2017
6
Seronegative Adult Autoimmune Enteropathy in a Male Traveler. ( 28184376 )
2017
7
Autoimmune enteropathy: not all flat mucosa mean coeliac disease. ( 27099674 )
2016
8
Severe Malabsorption Refractory to Pancreatic Enzyme Supplementation Unmasking Autoimmune Enteropathy in a Chronic Pancreatitis Patient. ( 27518366 )
2016
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
Wireless capsule endoscopy as a tool in diagnosing autoimmune enteropathy. ( 26150615 )
2015
12
Gastrointestinal Disorder Associated with Olmesartan Mimics Autoimmune Enteropathy. ( 26101883 )
2015
13
Autoimmune enteropathy in a 13-year-old celiac girl successfully treated with infliximab. ( 24504079 )
2014
14
Gastrointestinal biopsy findings of autoimmune enteropathy: a review of 25 cases. ( 25188868 )
2014
15
Recalcitrant Hypocalcaemia in Autoimmune Enteropathy. ( 25404718 )
2014
16
Diffuse Autoimmune Enteropathy and Colopathy in an Adult Patient Successfully Treated With Adalimumab and a Review of the Literature. ( 25379737 )
2014
17
Glutamine-supplemented parenteral nutrition and probiotics in four adult autoimmune enteropathy patients. ( 24827631 )
2014
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 )
2013
20
A Case of Isolated Autoimmune Enteropathy Associated with Autoantibodies to a Novel 28 kilodalton Duodenal Antigen. ( 23969534 )
2013
21
Mesenchymal stromal cell infusions as rescue therapy for corticosteroid-refractory adult autoimmune enteropathy. ( 22958995 )
2012
22
Enteropathy-associated T-cell lymphoma complicating an autoimmune enteropathy. ( 22226659 )
2012
23
Autoimmune enteropathy: a review and update of clinical management. ( 22810979 )
2012
24
Autoimmune enteropathy with a CD8+ CD7- T-cell small bowel intraepithelial lymphocytosis: case report and literature review. ( 22126605 )
2011
25
Cerebral venous thrombosis in autoimmune enteropathy. ( 20186248 )
2010
26
Autoimmune enteropathy associated with cessation of interferon-alpha therapy in chronic hepatitis C. ( 19639409 )
2010
27
Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy. ( 20537998 )
2010
28
Differential mucosal IL-17 expression in two gliadin-induced disorders: gluten sensitivity and the autoimmune enteropathy celiac disease. ( 19940509 )
2010
29
Anti-goblet cell antibodies for the diagnosis of autoimmune enteropathy? ( 19956142 )
2009
30
From autoimmune enteropathy to the IPEX (immune dysfunction, polyendocrinopathy, enteropathy, X-linked) syndrome. ( 19912978 )
2009
31
Autoimmune enteropathy in children and adults. ( 19255930 )
2009
32
Autoimmune enteropathy in Swedish children, 1985-2002: a call for strict diagnostic criteria. ( 18609171 )
2008
33
Bone marrow-derived mesenchymal stem cells ameliorate autoimmune enteropathy independently of regulatory T cells. ( 18420833 )
2008
34
Adult autoimmune enteropathy. ( 18300339 )
2008
35
Clinical and molecular aspects of autoimmune enteropathy and immune dysregulation, polyendocrinopathy autoimmune enteropathy X-linked syndrome. ( 19122524 )
2008
36
Adult autoimmune enteropathy: Mayo Clinic Rochester experience. ( 17683994 )
2007
37
Severe FOXP3+ and naA^ve T lymphopenia in a non-IPEX form of autoimmune enteropathy combined with an immunodeficiency. ( 17484867 )
2007
38
Enteropathy with loss of enteroendocrine and paneth cells in a patient with immune dysregulation: a case of adult autoimmune enteropathy. ( 16613334 )
2006
39
Autoimmune enteropathy and rheumatoid arthritis: a new association in the field of autoimmunity. ( 16920048 )
2006
40
Association between thymoma and autoimmune enteropathy in adults. ( 16996380 )
2006
41
Adult-onset autoimmune enteropathy in the setting of thymoma successfully treated with infliximab. ( 15906770 )
2005
42
Management of severe refractory adult autoimmune enteropathy with infliximab and tacrolimus. ( 15785040 )
2005
43
Autoimmune enteropathy: molecular concepts. ( 15703687 )
2004
44
Remission of severe autoimmune enteropathy after treatment with high-dose cyclophosphamide. ( 12717089 )
2003
45
Adult autoimmune enteropathy treated successfully with tacrolimus. ( 14581765 )
2003
46
Autoimmune enteropathy. ( 12952510 )
2003
47
Induction of remission in a child with autoimmune enteropathy using mycophenolate mofetil. ( 12658040 )
2003
48
Autoimmune enteropathy and colitis in an adult patient. ( 12924654 )
2003
49
Possible autoimmune enteropathy found in autistic children. ( 12020535 )
2002
50
Mechanisms of villous atrophy in autoimmune enteropathy and coeliac disease. ( 11982595 )
2002

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
12.29 FOXP3 ICAM1 IL17A IL2RA ITGAL
2
Show member pathways
12.21 FOXP3 IL17A IL2RA STAT3
3 12.09 ICAM1 IL2RA ITGAL
4 12.07 FOXP3 IL17A IL2RA STAT3
5 11.96 ICAM1 ITGAL STAT3
6 11.64 ICAM1 IL17A STAT3
7 11.45 ICAM1 IL17A ITGAL
8 11.33 ICAM1 ITGAL
9 11.27 ICAM1 STAT3
10 11.26 ICAM1 ITGAL
11
Show member pathways
11.23 FOXP3 ICAM1 IL17A STAT3
12 11.22 FOXP3 IL2RA
13
Show member pathways
11.19 IL2RA STAT3
14 11.18 ICAM1 ITGAL
15 11.17 ICAM1 STAT3
16
Show member pathways
11.05 FOXP3 IL2RA
17 10.9 IL2RA STAT3
18 10.83 IL2RA STAT3
19 10.74 FOXP3 ICAM1 IL2RA ITGAL

GO Terms for Autoimmune Enteropathy

Cellular components related to Autoimmune Enteropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 8.8 ICAM1 IL17A IL2RA

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 inflammatory response GO:0006954 9.46 IL17A IL2RA ITGAL 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 negative regulation of immune response GO:0050777 9.32 FOXP3 IL2RA
7 regulation of regulatory T cell differentiation GO:0045589 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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