Autoimmune enteropathy (AIE) [23 genes]

Autoimmune enteropathy is a rare autoimmune disorder with early onset, characterized by the presence of circulating autoantibodies directed against gut epithelial cells. A dysfunction of regulatory T cells may lead to autoantibody production, which causes noncoeliac enteropathy (NCE) with villous atrophy. This results in intestinal wall damage. Genetic testing offers differential diagnosis for other overlapping syndromes like congenital diarrhoea and provides alternative options for specific treatments.

  • Diarrhea with malabsorption and anorexia
  • Non-celiac enteropathy villous atrophy
  • Autoantibodies against enterocytes and goblet cells
  • Lymphocytic infiltration into intestinal crypts
  • Onset: infancy

~1:100.000

  • Differential diagnosis: congenital diarrhea
  • Genetic counseling
  • Hematopoietic stem cell transplantation (HSCT)
  • Immunosuppressants (cyclosporine)

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5. Result: the report

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Autoimmune enteropathy (AIE)

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110279

Autoimmune enteropathy (AIE): View panel
  • AIRE
  • CD55
  • CIITA
  • CTLA4
  • DEF6
  • DGAT1
  • EPCAM
  • FOXP3
  • GUCY2C
  • IL10
  • IL2RA
  • IL2RB
  • ITCH
  • MYO5B
  • NEUROG3
  • NFAT5
  • NLRC4
  • SKIV2L
  • SLC26A3
  • SLC9A3
  • SPINT2
  • STAT1
  • TTC38

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. IUIS Scientific Committee. Primary Immunodeficiency Diseases. Vol 118. (Rezaei N, Aghamohammadi A, Notarangelo LD, eds.). Berlin, Heidelberg: Springer Berlin Heidelberg; 2017. doi:10.1007/978-3-662-52909-6
  2. Malamut G1, Cerf-Bensussan N, Cellier C. Identification of new cases of severe enteropathy has recently increased the spectrum of intestinal non-celiac villous atrophy. Expert Rev Gastroenterol Hepatol. 2015 Jun;9(6):719-21. doi: 10.1586/17474124.2015.1039990.
  3. Powell BR, Buist NRM, Stenzel P. An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy. J Pediatr 1982; 100:731–737.
  4. Ruemmele FM1, Moes N, de Serre NP, Rieux-Laucat F, Goulet O. Clinical and molecular aspects of autoimmune enteropathy and immune dysregulation, polyendocrinopathy autoimmune enteropathy X-linked syndrome. Curr Opin Gastroenterol. 2008 Nov;24(6):742-8. doi: 10.1097/MOG.0b013e32830c9022.