P01-022 – MEFV gene mutations registered to infevers
Articles > Article · 2013
Authors: Afig BERDELİ, S Nalbantoglu, D Tigli, I Demirel, M Atan
Pediatric Rheumatology, International, WoS, 2013, vol 11
DOI: 10.1186/1546-0096-11-s1-a26
Summary
Familial Mediterranean Fever (FMF) is the most common hereditary autoinflammatory disorder characterized by fever and abdominal pain. 16p13.3 chromosomally located MEFV gene has been responsible for disease outcome and its protein product, Pyrin, is the key regulator protein of inflammasome complex which leads to IL-1B production and inflammation.