National CAPS (Cryopyrin-Associated Periodic Syndrome) Registry
نویسندگان
چکیده
منابع مشابه
National CAPS (Cryopyrin-Associated Periodic Syndrome) Registry
Patients and methods The Italian CAPS Registry started in 2004 and has currently enrolled 29 patients: 16 with Chronic Infantile Neurologic Cutaneous Articular Syndrome (CINCAs), 8 with Muckles Welles syndrome (MWS) and 5 with Familial Cold Urticaria (FCU). 16 patients were treated with Anakinra (IL-1 receptor antagonist) at 1 mg/kg/ day. The Child Health Questionnaire (CHQ-PF 50) was used to a...
متن کامل[CAPS: cryopyrin-associated periodic syndrome].
Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory syndrome caused by heterozygous mutations of NLRP3 gene. CAPS consists of three phenotypically similar but distinct syndromes: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and CINCA syndrome. Among them, FCAS shows the mildest phenotype while CINCA is the severest. Common symptoms include sporadic or c...
متن کاملNeurological outcome of patients with cryopyrin-associated periodic syndrome (CAPS)
BACKGROUND To assess the neurological involvement and outcome, including school and professional performances, of adults and children with cryopyrin-associated periodic syndrome (CAPS). METHODS In this observational study, patients with genetically proven CAPS and followed in the national referral centre for autoinflammatory diseases at Bicêtre hospital were assessed. Neurological manifestati...
متن کاملRilonacept in the management of cryopyrin-associated periodic syndromes (CAPS)
Cryopyrin-associated periodic syndromes (CAPS) are a subgroup of the hereditary periodic fever syndromes, which are rare autoinflammatory and inherited disorders, characterized by recurrent inflammation and varying degrees of severity. CAPS are thought to be driven by excessive production of interleukin-1β (IL-1β), through over-activation of the inflammasome by gain of function mutations in the...
متن کاملLong-term safety and efficacy of Canakinumab in cryopyrin-associated periodic syndrome (CAPS) patients: results from beta-confident registry
Background CAPS encompasses a spectrum of three phenotypes: familial cold auto-inflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and chronic infantile neurologic cutaneous and articular syndrome/neonatal onset multisystem inflammatory disease (CINCA/ NOMID)[1]. The b-Confident Registry, the largest CAPS cohort documented in a registry, enrolled the last patient in December 2014. Here, ...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2011
ISSN: 1546-0096
DOI: 10.1186/1546-0096-9-s1-p1