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)
|