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CARD15 mutations in Blau syndrome

✍ Scribed by Miceli-Richard, Corinne; Lesage, Suzanne; Rybojad, Michel; Prieur, Anne-Marie; Manouvrier-Hanu, Sylvie; Häfner, Renate; Chamaillard, Mathias; Zouali, Habib; Thomas, Gilles; Hugot, Jean-Pierre

Book ID
109919658
Publisher
Nature Publishing Group
Year
2001
Tongue
English
Weight
129 KB
Volume
29
Category
Article
ISSN
1061-4036

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## Abstract This is the first report of a __CARD15__ mutation–positive patient with Blau syndrome who exhibited interstitial lung disease, a feature historically considered absent from Blau syndrome, while typical of the adult form of sarcoidosis. This case illustrates the continued evolution of th

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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
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## Abstract ## 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 recombina