IllnessAutoimmune polyglandular insufficiency

NGS +

Sanger

Autoimmune polyendocrine syndromes (APS) comprise a diverse group of clinical disorders characterized by functional impairment of multiple endocrine glands due to impaired immune tolerance. APS-1 is also known as Autoimmune PolyEndocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED). Here, at least two of three cardinal components develop during childhood - chronic mucosal candidiasis, hypoparathyroidism and primary adrenal insufficiency. Enteropathy with chronic diarrhea and/or constipation and dental enamel hypoplasia develop typically. Premature ovarian failure (in 60% of affected women), bilateral keratitis and periodic fever as well as autoimmune-induced hepatitis, pneumonitis, nephritis, exocrine pancreatitis and functional asplenia may be present as well as atypical symptom combinations and courses. Inheritance is usually autosomal recessive; alternatively, dominant-negative mutations cause milder courses. APS-2 is far more common and multifactorial. Symptoms of two of three endocrinopathies (type 1 diabetes, autoimmune thyroiditis, Addison's disease) must be present, thus multiple subcategories can occur. The DNA diagnostic yield for APS-1 is unknown.

Reference: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6007870/

• Alias: APS type 1; APS1 (AIRE)
• Alias: Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome (AIRE)
• Alias: Autoimmune polyendocrine syndrome (AIRE)
• Alias: Autoimmune polyendocrinopathy type 1 (AIRE)
• Alias: Autoimmune polyglandular syndrome, type 1 (AIRE)
• Alias: HAM syndrome; MEDAC syndrome (AIRE)
• Alias: Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome (AIRE)
• Alias: Multiple endocrine deficiency-Addison disease-candidiasis syndrome (AIRE)
• Autoimmune PolyEndocrinopathy-Candidiasis-Ectodermal Dystrophy [APECED syndrome] (AIRE)
• Autoimmune polyendocrinopathy syndrome, type I, with/-out reversible metaphyseal dysplasia (AIRE)