Autoimmune polyendocrinopathy [13 genes]

Autoimmune polyendocrinopathies are a cluster of endocrine disorders caused by a dysregulated immune response targeted against endocrine glandular tissue. Failure of T cell tolerance (usually loss of functional T reg cells) prevents the apoptosis of autoreactive T cells and, therefore, they are released into circulation. In addition to IPEX syndrome (Immune Dysregulation, Polyendocrinopathy, enteropathy, X-linked; caused by FOXP3 mutations) and APS-1 (caused by mutations in AIRE), there are other syndromes with defects in genes controlling T cell regulation that resemble an IPEX phenotype (IPEX-like syndromes).

  • Diabetes mellitus
  • Addison’s disease
  • Thyroiditis
  • Hepatitis
  • Diarrhea

~1:100.000

  • Diagnosis and genetic counseling
  • Hematopoietic stem cell transplantation (HSCT)
  • Immunosuppressants

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Autoimmune polyendocrinopathy

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110280

Autoimmune polyendocrinopathy: View panel
  • AIRE
  • CD226
  • CIITA
  • CTLA4
  • DOCK8
  • FOXP3
  • IL2RA
  • IL2RB
  • ITCH
  • MC2R
  • STAT1
  • STAT3
  • STAT5B

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. Hannibal MC, Torgerson T. IPEX Syndrome. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. SourceGeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
  2. 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
  3. Sperling M, Yau M. Autoimmune Polyglandular Syndromes. NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health. De Groot LJ, Chrousos G, Dungan K, et al., editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000.
  4. Verbsky JW, Chatila TA. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases. Curr Opin Pediatr. 2013 Dec;25(6):708-14. doi: 10.1097/MOP.0000000000000029.
  5. Waterfield M1, Anderson MS. Clues to immune tolerance: the monogenic autoimmune syndromes. Ann N Y Acad Sci. 2010 Dec;1214:138-55. doi: 10.1111/j.1749-6632.2010.05818.x. Epub 2010 Oct 22.