A Novel Mutation in TNFRSF1A Associated With Overlapping Features of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome and Hyper-IgD Syndrome

CER309
2010 Vol.28, N°1
PI 0094, PF 0096
Case Reports

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PMID: 20346247 [PubMed]

Received: 28/03/2009
Accepted : 24/06/2009
In Press: 11/03/2010
Published: 15/03/2010

Abstract

ABSTRACT:We describe a 10-year-old child with a novel mutation, c.352A>G/p.Thr118Ala (T89A) in the tumour necrosis factor receptor superfamily 1A (TNFRSF1A) gene. The patient presented with periodic fevers beginning at 2 years of age. He had overlapping clinical and laboratory features of tumour necrosis factor receptor-associated periodic syndrome (TRAPS) and hyper-IgD syndrome (HIDS). This patient expands the clinical and genetic spectrum of TRAPS.