Article
Granulomatous skin involvement in a patient with an unusual NOD2 mutation.
The Australasian journal of dermatology - 1 May 2017
Kuye Ifedayo O, Adisa Morayo, Nazarian Rosalynn M, Arvikar Sheila L, Smith Gideon P
Abstract excerpt
Blau syndrome is a rare disorder that is classically characterised by granulomatous arthritis, skin eruptions and uveitis, which occur in the absence of lung involvement. Blau syndrome has been linked to encoding mutations in the NOD-2 gene and is inherited in an autosomal dominant form. The most commonly observed mutations are missense substitutions affecting the arginine residue at position 334. The rare E600A...
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