Challenges in Diagnosing Muckle-Wells Syndrome: Identifying Two Distinct Phenotypes
Author:
Affiliation:
1. University Hospital Tubingen; Tubingen Germany
2. The Hospital for Sick Children, University of Toronto; Toronto, Ontario Canada
3. CEREMAI, CHU Bicêtre APHP, University of Paris SUD; Paris France
Publisher
Wiley
Subject
Rheumatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/acr.22206/fullpdf
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3. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases;Aksentijevich;Arthritis Rheum,2002
4. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome;Hoffman;Nat Genet,2001
5. Familial autoinflammatory diseases: genetics, pathogenesis and treatment;Stojanov;Curr Opin Rheumatol,2005
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