PW02-028 - Association of novel NLRP3 mutations with CAPS phenotype in Turkish patients
Makaleler > Tam Makale · 2013
Yazarlar: Afig BERDELİ, S Nalbantoglu, D Tigli, I Demirel, M Atan, B Sozeri
Pediatric Rheumatology, Uluslararası, Wos, 2013, cilt 11
DOI: 10.1186/1546-0096-11-s1-a169
Özet
Cryopyrin-Associated Periodic Syndromes (CAPS) are a group of rare, inherited, autoinflammatory diseases involved of Familial Cold Autoinflammatory Syndrome (FCAS),Muckle-Wells Syndrome (MWS) and Neonatal Onset Multisystem Inflammatory Disease (NOMID) (also called Chronic Infantile Neurologic Cutaneous Articular, or CINCA, Syndrome. The responsible gene NLRP3 (nucleotide-binding domain, leucine-rich family [NLR], pyrin domain containing, produces cryopyrin protein which participates in inflammasome complexes leading to production of interleukin-1β (IL-1β) and autoinflammation.