Autoimmune Polyendocrinopathy (AP) panel [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).

Clinical features

  • Diabetes mellitus
  • Addison disease
  • Thyroiditis
  • Hepatitis
  • Diarrhoea

Prevalence

  • ~1:100,000

Service benefits and management

  • Hematopoietic stem cell transplantation (HSCT)
  • Immunosuppressive agents
  • Genetic counselling
  • Accurate diagnosis and phenotype-genotype correlation

AIRE, CIITA, CTLA4, DOCK8, FOXP3, IL2RA, ITCH, MC2R, MRAP, NR0B1, STAT1, STAT3, STAT5B

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