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

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.

• Authors: F T Saulsbury, E F Remmers, I Aksentijevich
• Journal: Clinical and experimental rheumatology (Clin Exp Rheumatol) Vol. 28 Issue 1 Pg. 94-6 ( 2010) ISSN: 0392-856X [Print] Italy
• PMID: 20346247 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Intramural)

Chemical References

• Receptors, Tumor Necrosis Factor
• Receptors, Tumor Necrosis Factor, Type I
• TNFRSF1A protein, human

Topics

• Child
• Familial Mediterranean Fever (genetics)
• Humans
• Male
• Mevalonate Kinase Deficiency (genetics)
• Point Mutation
• Receptors, Tumor Necrosis Factor (genetics)
• Receptors, Tumor Necrosis Factor, Type I (genetics)