Clinical significance of @entity66323 and XXXX substitutions in the @entity5 necrosis factor superfamily 1A gene.

@entity1 @entity32 @entity462 @entity5 @entity16103 @entity66323 @entity10736
OBJECTIVE: @entity5 ( @entity5 ) has been associated with several mutations in the @entity10736 ( @entity10736 ), including most @entity462 substitutions. However, the nature of two substitutions, @entity66323 and @entity16103 , remains a topic of discussion. The aim of this study was to assess the actual role of these two sequence variations in a series of @entity1 with @entity5 . METHODS: The main clinical data of 89 @entity1 with @entity5 have been prospectively registered on a standard form. 84 @entity1 or members of families with recurrent episodes of inflammatory symptoms spanning a period of more than 6 months and harbouring a @entity10736 mutation were studied. Clinical data have been analysed according to the nature of the mutation- @entity66323 , @entity16103 or others. RESULTS: @entity66323 is often seen in @entity1 from Maghreb and is associated with a mild phenotype. @entity66323 appears as a polymorphism with a non-specific role in @entity32 . @entity16103 is associated with a variable phenotype and presents as a low-penetrance mutation. Interpreting these results will require a comparison with clinical signs and genetic background.
