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

Clinical and Experimental Rheumatology

Frank T. Saulsbury¹  Ivona Aksentijevich¹  Elaine F. Remmers¹ 

关键词: TRAPS;    IgD;    fever;   

DOI  :  

学科分类：医学（综合）

来源: Pacini Editore SpA

【 摘 要 】

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.

【 授权许可】

Unknown