RT Journal Article
SR Electronic
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
FD The Journal of Rheumatology
SP 747
OP 751
VO 32
IS 4
A1 Véronique Hentgen
A1 Véronique Despert
A1 Anne-Claire Leprêtre
A1 Laurence Cuisset
A1 Jacqueline Chevrant-Breton
A1 Patrick Jégo
A1 Gérard Chalès
A1 Edouard Le Gall
A1 Marc Delpech
A1 Gilles Grateau
YR 2005
UL http://www.jrheum.org/content/32/4/747.abstract
AB 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.