TNF receptor-associated periodic syndrome (TRAPS): Description of a novel TNFRSF1A mutation and response to etanercept

TNF receptor-associated periodic syndrome (TRAPS): Description of a novel TNFRSF1A mutation and response to etanercept

Autor Jesus, Adriana A. Google Scholar
Oliveira, Joao B. Google Scholar
Aksentijevich, Ivona Google Scholar
Fujihira, Eirka Google Scholar
Carneiro-Sampaio, Magda M. S. Google Scholar
Duarte, Alberto J. S. Google Scholar
Silva, Clovis A. A. Google Scholar
Instituição Universidade Federal de São Paulo (UNIFESP)
Universidade de São Paulo (USP)
NIAMSD
Resumo TRAPS is the most common of the autosomal dominant periodic fever syndromes. It is caused by mutations in the TNFRSF1A gene, which encodes for the type 1 TNF-receptor (TNFR1). We describe here a Brazilian patient with TRAPS associated to a novel TNFRSF1A de novo mutation and the response to anti-TNF therapy. the patient is a 9-year-old girl with recurrent fevers since the age of 3 years, usually lasting 3 to 7 days, and recurring every other week. These episodes are associated with mild abdominal pain, nausea, vomiting and generalized myalgia. Recurrent conjunctivitis and erysipela-like skin lesions in the lower limbs also occur. Laboratory studies show persistent normocytic normochromic anemia, thrombocytosis, elevated erythrocyte sedimentation rate and C-reactive protein. IgD levels are normal. Mutational screening of TNFRSF1A revealed the association of a novel C30F mutation with the common R92Q low-penetrance mutation. the R92Q mutation is seen in 5% of the general population and is associated with an atypical inflammatory phenotype. the patient had a very good response to etanercept, with cessation of fever and normalization of inflammatory markers. Our report expands the spectrum of TNFRSF1A mutations associated with TRAPS, adding further evidence for possible additive effects of a low-penetration R92Q and cysteine residue mutations, and confirms etanercept as an efficacious treatment alternative.
Palavra-chave Periodic fever
TNF-receptor
Hibernian fever
Mutation
TNFRSF1A
Idioma Inglês
Data de publicação 2008-12-01
Publicado em European Journal of Pediatrics. New York: Springer, v. 167, n. 12, p. 1421-1425, 2008.
ISSN 0340-6199 (Sherpa/Romeo, fator de impacto)
Publicador Springer
Extensão 1421-1425
Fonte http://dx.doi.org/10.1007/s00431-008-0685-2
Direito de acesso Acesso restrito
Tipo Artigo
Web of Science WOS:000260182700011
Endereço permanente http://repositorio.unifesp.br/handle/11600/31063

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