Disease Phenotype and Outcome Depending on the Age at Disease Onset in Patients Carrying the R92Q Low-Penetrance Variant in TNFRSF1A Gene.

ABSTRACT:

Background

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal-dominant autoinflammatory disease caused by mutations in the TNFRSF1A gene. R92Q, a low-penetrance variant, is usually associated with a milder TRAPS phenotype than structural or pathogenic mutations. No studies differentiating R92Q-related disease in patients with pediatric and adult onset have been performed to date.

Objective

To analyze clinical features and disease outcomes in patients diagnosed with TRAPS associated with R92Q variant and to investigate differences between patients with pediatric and adult disease onset.

Methods

A retrospective review of patients with R92Q-related disease from four reference centers for autoinflammatory diseases was performed. Cli

SUBMITTER: Ruiz-Ortiz E 

PROVIDER: S-EPMC5366323 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature