Abstract
Cryopyrin-associated periodic syndrome (CAPS) is an inherited disease which is caused by gain-of function mutations in CIAS1 gene function resulting in increased secretion of active IL-1β. As known more than 40% of patients with CAPS are genetic negative in CIAS1 gene. One of theories explains this is a fact is a somatic mozaicism.
Highlights
Cryopyrin-associated periodic syndrome (CAPS) is an inherited disease which is caused by gain-of function mutations in CIAS1 gene function resulting in increased secretion of active IL-1b
As known more than 40% of patients with CAPS are genetic negative in CIAS1 gene
Siberian Branch of the Russian Academy of Medical Sciencesuts, Pediatric Department, Irkutsk, Russian Federation
Summary
M Kostik1*, L Snegireva[1], I Babikova[2], E Kalashnikova[3], A Rakhimyanova[4], G Glazyrina[5], T Knyazeva[6], L Richkova[6], V Chasnyk[1]. From 8th International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases Dresden, Germany. From 8th International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases Dresden, Germany. 30 September - 3 October 2015
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
