Disease phenotype and outcome depending on age at disease onset in patients carrying the R92Q low-penetrance variant in TNFRSF1A gene

Ruiz-Ortiz E, Iglesias E, Soriano A, Zaragoza-Garcia O, Arostegui JI, Espada G, Merino R, Cattalini M, Obici L, Antón J

Front Immunol · 2017

Grade Bcohort

Key Findings

  • Analysed clinical features by age of onset in R92Q carriers
  • R92Q associated with milder phenotype than structural mutations
  • Higher tendency toward spontaneous resolution

Referenced in (1 disease)

ID: pmid-28396659DOI: 10.3389/fimmu.2017.00299PMID: 28396659