Disease Phenotype and Outcome Depending on the Age at Disease Onset in Patients Carrying the R92Q Low-Penetrance Variant in TNFRSF1A Gene

BACKGROUND: Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autosomal-dominant autoinflammatory disease caused by mutations in the TNFRSF1A gene. R92Q, a low-penetrance variant, is usually associated with a milder TRAPS phenotype than structural or pathogenic mutations. No...

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Detalhes bibliográficos
Publicado no:Front Immunol
Main Authors: Ruiz-Ortiz, Estíbaliz, Iglesias, Estíbaliz, Soriano, Alessandra, Buján-Rivas, Segundo, Español-Rego, Marta, Castellanos-Moreira, Raul, Tomé, Adrià, Yagüe, Jordi, Antón, Jordi, Hernández-Rodríguez, José
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2017
Assuntos:
Immunology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5366323/
https://ncbi.nlm.nih.gov/pubmed/28396659
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2017.00299
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