Format

Send to

Choose Destination
See comment in PubMed Commons below
Clin Exp Rheumatol. 2010 Jan-Feb;28(1):94-6.

A novel mutation in TNFRSF1A associated with overlapping features of tumor necrosis factor receptor-associated periodic syndrome and hyper-IgD syndrome.

Author information

1
Department of Pediatrics, University of Virginia Health System, Charlottesville, Virginia 22908, USA. fts@virginia.edu

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.

PMID:
20346247
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Clinical and Experimental Rheumatology
    Loading ...
    Support Center