CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy.

doi:10.1002/art.10618

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CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy.

Arthritis and rheumatism - 1 Nov 2002

Wang Xiaoju, Kuivaniemi Helena, Bonavita Gina, Mutkus Lysette, Mau Ulrike, Blau Edward, Inohara Naohiro, Nunez Gabriel, Tromp Gerard, Williams Charlene J

Abstract excerpt

OBJECTIVE: To analyze the CARD15 gene in families with heritable multi-organ granulomatoses, including the original Blau syndrome kindred as well as other families with related granulomatous conditions. METHODS: Linkage mapping was performed in 10 families. Observed recombination events were used to exclude regions centromeric or telomeric to 16q12.1, and the Blau gene critical region was refined to <3 cM,...

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CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy.

Abstract excerpt

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