Cryopyrin-associated autoinflammatory syndrome: a new mutation
نویسندگان
چکیده
منابع مشابه
Interleukin-1 antagonists in the treatment of autoinflammatory syndromes, including cryopyrin-associated periodic syndrome
Cryopyrin-associated periodic syndrome (CAPS) include a group of rare autoinflammatory disorders, the spectrum of which ranges from the mildest form, ie, familial cold autoinflammatory syndrome to more severe phenotypes, ie, Muckle-Wells syndrome, and chronic infantile neurological cutaneous and articular syndrome, also known as neonatal-onset multisystem inflammatory disease. Three interleukin...
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 کاملDifferences in disease activity in cryopyrin-associated periodic syndrome in mutation-positive and mutation-negative patients
Materials 9 patients with CAPS (6 CINCA and 3 Muckle-Wells syndromesMWS) were included in our study. In all patients genetic tests in CIAS1 gene was performed. 4 patients have positive mutations (3 CINCA and 1 MWS) and 5 have not any mutations in CIAS1 gene (3 CINCA and 2 MWS). Disease activity was measured with applying simplified auto-inflammatory disease activity index (sAIDAI, M.Piram et al...
متن کاملNational 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 کاملDescription of a new family with cryopyrin-associated periodic syndrome: risk of visual loss in patients bearing the R260W mutation.
OBJECTIVE The aim of this study was to describe a family with cryopyrin-associated periodic syndrome (CAPS) in which the disease was unveiled after the ophthalmologic evaluation. METHODS Family and personal histories from each of the patients were recorded. Each underwent a full ophthalmological examination along with the physical examination. The mutational analysis of the NLRP3 gene was per...
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ژورنال
عنوان ژورنال: Annals of the Rheumatic Diseases
سال: 2007
ISSN: 0003-4967
DOI: 10.1136/ard.2006.064899