Article
A Novel Pathogenic NOD2 Variant in a Mother and Daughter with Blau Syndrome.
Ophthalmic genetics - 1 Dec 2021
Rodrigues Filipa G, Petrushkin Harry, Webster Andrew R, Bickerstaff Maria, Moraitis Elena, Rowczenio Dorota, Aróstegui Juan I, Westcott Mark
Abstract excerpt
BACKGROUND: Blau syndrome (BS) is a rare dominantly-inherited autoinflammatory disorder characterized by the triad of arthritis, uveitis and dermatitis that is consequence of gain-of-function NOD2 mutations. We describe the clinical features and genetic basis of a family with two affected members in consecutive generations affected with childhood onset arthritis and uveitis. MATERIALS AND METHODS: Clinical...
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