The Effect of Gene Mutations on Disease Severity Scores in Pediatric Familial Mediterranean Fever Patients

Objectives: Familial Mediterranean Fever (FMF) is a self-limiting autoinflammatory disease. In order to better understand the prognosis of diseases, disease severity scores are used. The aim this study determine effect genetic mutations on in children with FMF. Methods: 303 patients between ages 0-18, who were diagnosed FMF according Yalçınkaya-Özen diagnostic criteria and whose gene analysis was studied, evaluated retrospectively. Pras et al's scoring system, Mor system International score (ISSF) applied all patients. Genotypes compared scores. Results: When divided into 4 groups as M694V homozygous, heterozygous, M694V/other allele combined heterozygous other mutations, al., frequency mild tended be less homozygous group. M694V, E148Q, M694V/M680I found common groups, more severe group three systems. Conclusions: Based described by rate higher allele, whereas statistically significantly