PW02-038 - Treatment-resistant NOMID with autoantibodies
نویسندگان
چکیده
Introduction Neonatal Onset Multisystem Inflammatory Disorder (NOMID) is the most severe of the Cryopyrin-Associated Periodic Syndromes (CAPS) spectrum [1]. Given the persistent nature of CAPS, symptoms may be confused with autoimmune diseases. However, unlike autoimmune diseases, autoinflammatory disorders are not associated with high-titer autoantibodies or antigen-specific T cells. Here we describe a patient with severe and early onset features of NOMID confirmed by NLRP3 mutation, hepatitis, neonatal antibodies and a limited response to high dose anakinra.
منابع مشابه
PW02-039 - Long-term anakinra treatment in CAPS: a metaanalys
Introduction The common denominator in CAPS (FCAS, MuckleWells syndrome, NOMID/CINCA) is an uncontrolled IL-1b release. An often complete response after treatment with the IL-1 blocker anakinra (Kineret) has been demonstrated in all three entities of CAPS [1-3]. However, the overall documentation is limited due to the inherent difficulties in conducting randomized studies in the more severe for...
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Introduction Cryopyrin-Associated Periodic Syndromes (CAPS) are a group of rare, inherited, autoinflammatory diseases involved of Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS) and Neonatal Onset Multisystem Inflammatory Disease (NOMID) (also called Chronic Infantile Neurologic Cutaneous Articular, or CINCA, Syndrome. The responsible gene NLRP3 (nucleotide-binding d...
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