Article
Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene.
Arthritis and rheumatism - 1 Apr 2011
Pelagatti M A, Meini A, Caorsi R, Cattalini M, Federici S, Zulian F, Calcagno G, Tommasini A, Bossi G, Sormani M P, Caroli F, Plebani A, Ceccherini I, Martini A, Gattorno M
Abstract excerpt
OBJECTIVE: To analyze the long-term impact of the R92Q mutation of TNFRSF1A in children with periodic fever, in comparison with children with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) with TNFRSF1A structural mutations and children with periodic fever of unknown origin fulfilling the criteria for periodic fever, aphthosis, pharyngitis, and adenitis syndrome (PFAPA). METHODS: The...
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