Differences in disease activity in cryopyrin-associated periodic syndrome in mutation-positive and mutation-negative patients

M Kostik,A Rakhimyanova,L Snegireva,V Chasnyk,E Kalashnikova,I Babikova,T Knyazeva,L Richkova,G Glazyrina

doi:10.1186/1546-0096-13-s1-p69

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

Open Access

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

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