Missense mutation V20A in the tumor necrosis factor receptor superfamily 1A (TNFRSF1A) gene is associated with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) presenting with periodic gastrointestinal symptoms.

摘要

To the Editor: Identification of the etiology of chronic abdominal pain is often challenging. Tumor necrosis factor receptor (TNFR)-associated periodic fever syndrome (TRAPS) is a rare autosomal dominant disorder characterized by recurrent episodes of fever, myalgia, abdominal pain, and skin eruptions. Mutations in the TNFRSF1A (TNFR super-family 1A) gene are responsible for TRAPS. Most of the reported mutations reside in exons 2, 3, and 4, which code the extracellular portion of TNFRSF1A . Herein, we report the first case of TRAPS associated with the mutation V20A in the TNFRSF1A gene.