Blau syndrome is associated with mutation of:
Ans: (a) NOD2/CARD 15 geneRef: Harrison, 19th edition, Page 2215 and Genetic Home ReferenceBlau's syndromeCaused by mutations in CARD15 (also known as NOD2), which regulates nuclear factor-xB activation.The protein produced from this gene helps defend the body from foreign invaders, such as viruses and bacteria, by playing several essential roles in the immune response, including inflammatory reactions.Inheritance - Autosomal dominant.Blau's syndrome is characterized by granulomatous dermatitis, uveitis and arthritis; distinct CARD15 variants predispose to Crohn's disease.Recessive mutations in one or more components of the proteasome lead to excessive interferon signaling and the syndrome of chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE), a severe form of generalized panniculitis.
NOD2/CARD 15 gene
NOD 1/CARD 1 gene
NOD2/CARD 10 gene
NOD3/CARD 12 gene
Genetics