Article
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.
American journal of human genetics - 1 Jul 2002
Feldmann Jérôme, Prieur Anne-Marie, Quartier Pierre, Berquin Patrick, Certain Stephanie, Cortis Elisabetta, Teillac-Hamel Dominique, Fischer Alain, de Saint Basile Genevieve
Abstract excerpt
Chronic infantile neurological cutaneous and articular (CINCA) syndrome is a severe chronic inflammatory disease of early onset, characterized by cutaneous symptoms, central-nervous-system involvement, and arthropathy. In the present study, we report, in seven unrelated patients with CINCA syndrome, distinct missense mutations within the nucleotide-binding site of CIAS1, a gene encoding cryopyrin and previously...
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