TY - JOUR T1 - <em>TNFRSF1A</em> Gene Causing Tumor Necrosis Factor Receptor-associated Periodic Syndrome in 2 Siblings Displaying Variable Disease Severity and Discordant Heterozygosity for an <em>MEFV E148Q</em> Variant JF - The Journal of Rheumatology JO - J Rheumatol SP - 1534 LP - 1535 DO - 10.3899/jrheum.141240 VL - 42 IS - 8 AU - REEM ABDWANI AU - EIMAN ABDALLA AU - SAFIYA AL ABRAWI AU - KHALID AL-THIHLI Y1 - 2015/08/01 UR - http://www.jrheum.org/content/42/8/1534.abstract N2 - To the Editor:Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal dominant periodic fever syndrome with pan-ethnic distribution caused by mutations in TNFRSF1A1. To date, over 100 mutations have been described. Among whites, the R92Q mutation is the most frequently observed variant of the TNFRSF1A gene. R92Q is a missense low-penetrance gene mutation that is associated with a mild severity, high rate of spontaneous amelioration, and lower prevalence of amyloidosis compared with structural gene mutation variants2. Despite its relatively high prevalence in the general population, ranging from 1.2% to 4%, only 1 clinically ascertained patient has been described with homozygous R92Q variant3. We hereby describe 2 Omani sisters with TRAPS caused by homozygous R92Q variants in TNFRSF1A. One of the siblings also had associated E148Q variant in the MEFV gene. They both displayed severe phenotype with evident clinical variability.A 12-year-old girl presented at 18 months of age with frequent episodes of high-grade fever lasting between 5 to 14 days occurring … Address correspondence to Dr. R. Abdwani, Child Health Department, Sultan Qaboos University Hospital, P.O. Box 35, P C 123, Al Khod, Sultanate of Oman. E-mail: reemabd{at}hotmail.com ER -