Article
Phenotype and cytokine profile in a TRAPS Syndrome family with TNFRSF1A p.(Thr79Met): Association with sacro-iliitis.
Joint bone spine - 1 Oct 2022
Dingulu Glory, Delwail Adriana, Cuisset Laurence, Lecron Jean-Claude, Gervais Elisabeth
Abstract excerpt
OBJECTIVE: A comparative retrospective and analytic study was performed in 13 members of a family, affected or not by tumor necrosis factor TNF-α receptor-associated periodic syndrome (TRAPS), including one patient with sacro-illitis. METHODS: Clinical features and TNFRSF1A gene analysis were reported for each family member, symptomatic or asymptomatic. Biological features including CRP/SAA, IgD and ex vivo T...
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