TY - JOUR T1 - Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome. JF - The Journal of Rheumatology JO - J Rheumatol SP - 747 LP - 751 VL - 32 IS - 4 AU - Véronique Hentgen AU - Véronique Despert AU - Anne-Claire Leprêtre AU - Laurence Cuisset AU - Jacqueline Chevrant-Breton AU - Patrick Jégo AU - Gérard Chalès AU - Edouard Le Gall AU - Marc Delpech AU - Gilles Grateau Y1 - 2005/04/01 UR - http://www.jrheum.org/content/32/4/747.abstract N2 - Among hereditary inflammatory disorders, Muckle-Wells syndrome, chronic infantile neurological cutaneous and articular syndrome (CINCA), and familial cold urticaria have recently been shown to be caused by dominantly inherited mutations in the CIAS1 gene. Reports suggest that these 3 diseases result from distinct missense mutations, with very few overlapping symptoms. We describe a French family presenting an intrafamilial overlapping clinical phenotype of CINCA and Muckle-Wells syndrome, caused by a mutation in CIAS1 gene. Clinical and genetic observations suggest that Muckle-Wells syndrome, CINCA, and familial cold urticaria are various phenotypic expressions of the same disease. ER -