Type 1 Autosomal recessive Mutations of AIRE
- Rare Mutations of AIRE (Auto Immune regulator) gene on chromosome 21.
- Clinical
- Addison’s disease
- Chronic mucocutaneous candidiasis
- Hypoparathyroidism
- Associated with hypogonadism, pernicious anaemia, autoimmune primary hypothyroidism, chronic active hepatitis, vitiligo, alopecia
Type 2 HLA D3 and D4 linked
- Common. Cause: Polygenic.
- Clinical
- Addison’s disease
- Type 1 diabetes mellitus (in 20%).
- Autoimmune thyroid disease: hypothyroidism or Graves’ disease.
- Also associated with primary hypogonadism, vitiligo, alopecia, pernicious anaemia, chronic atrophic gastritis, coeliac disease, dermatitis herpetiformis.