Article
A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil.
Arthritis and rheumatism - 1 Dec 2011
Jesus Adriana A, Osman Mazen, Silva Clovis A, Kim Peter W, Pham Tuyet-Hang, Gadina Massimo, Yang Barbara, Bertola Débora R, Carneiro-Sampaio Magda, Ferguson Polly J, Renshaw Blair R, Schooley Ken, Brown Michael, Al-Dosari Asma, Al-Alami Jamil, Sims John E, Goldbach-Mansky Raphaela, El-Shanti Hatem
Abstract excerpt
OBJECTIVE: Monogenic autoinflammatory diseases are disorders of Mendelian inheritance that are characterized by mutations in genes that regulate innate immunity and whose typical features are systemic inflammation without high-titer autoantibodies or antigen-specific T cells. Skin and bone inflammation in the newborn period have been described in 3 of these autoinflammatory disorders: neonatal-onset multisystem...
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