Chronic infantile neurological cutaneous and articular (CINCA) syndrome, also known as neonatal onset multisystemic inflammatory disease (NOMID), is a rare congenital inflammatory disorder characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation. It represents the most severe phenotype of the cryopyrin-associated periodic syndrome (CAPS).
Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, Teillac-Hamel D, Fischer A, de Saint Basile G
タイトル
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.
