P03-016 - ANTI IL1 refractory CINCA respondes to ANTI IL6
نویسندگان
چکیده
Case Report A 13 year old boy from a healthy non-consanguineous family suffers from severe autoinflammatory symptoms (persistent fever, polyserositis, urticaria, arthritis, developmental delay, deafness and hepatosplenomegaly) since his first year of life. Based on clinical presentation and genotype (heterozygous mutation (CAG)>Lysin (AAG)-p. Gln703Lys/Q705K substitution in Exon 3 of NLPR3) he was diagnosed for CINCA, an IL-1 driven cryopyrinopathy. Despite intensive pretreatment (NSAI, GC pulses, MTX, Anakinra and Canakinumab), no durable control of autoinflammation was achievable. With the initiation of Tozilizumab, an IL-6 receptor antagonist, all signs of autoinflammation disappeared, ESR and Serum Amyloid normalized within days. Finally the boy was even able to build a snowman without any joint stiffness or arthralgias for the first time of his life. The patient is now in stable clinical remission for > 6 months.
منابع مشابه
Chronic Infantile Neurological Cutaneous and Articular (CINCA) syndrome: a review
INTRODUCTION The Chronic Infantile Neurological Cutaneous and Articular (CINCA, or Neonatal-onset multisystem inflammatory disease NOMID) is a rare autoinflammatory disease identified in 1987 by Prieur et al., typically characterized by the triad of skin rash, arthropathy and central nervous system manifestations. It represents the most severe phenotype of the cryopyrin-associated periodic synd...
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