P02-032 - CAPS: a novel mutation and an unusual phenotype
نویسندگان
چکیده
Introduction Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory syndrome caused by heterozygous mutations of CIAS1/NLRP3 gene. Affected patients may present with three different phenotypes: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and CINCA syndrome. Common symptoms include sporadic or cold-induced non pruritic urticarial rash and fever. Severe cases suffer from deafness, meningitis, articular contracture and secondary amyloidosis.
منابع مشابه
P02-021 - Atypical CAPS consequence of novel NLPR3 mutations
Introduction Cryopyrin-associated periodic syndromes (CAPS) are a group of dominantly inherited disorders caused by gainof-function NLRP3 mutations. These disorders represent different degrees of severity of a same disease being familial cold autoinflammatory syndrome the milder form, Muckle-Wells syndrome an intermediate form and chronic infantile neurologic cutaneous and articular syndrome th...
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Background: Mucopolysaccharidosis type-VI (MPS-VI), which is inherited as an autosomal recessive trait, results from the deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B) activity and the lysosomal accumulation of dermatan sulfate. In this study, ARSB mutation analysis was performed on three unrelated patients who were originally from the West Azerbaijan province of Iran. Method...
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Introduction AA amyloidosis may develop as a consequence of chronic inflammatory conditions including inherited periodic fever syndromes. Mevalonate-kinase (MVK) deficiency (MKD) appears to be the least frequent underlying condition after FMF, TRAPS and CAPS. Moreover, amyloidosis rarely manifests during childhood. We report a case of a small child in whom renal biopsy performed because of the ...
متن کاملP02-026 - Model-based characterization of the PKPD relationship for canakinumab in CAPS: a step towards personalized
Objectives The objectives of the study were to describe the kinetics of canakinumab and dynamics of binding IL-1b in CAPS patients; to determine if these are different in 2and 3-year-old children versus older children and adults; and to explore the impact of CAPS phenotype (Muckle-Wells Syndrome [MWS], Familial Cold Autoinflammatory Syndrome [FCAS], Neonatal-Onset Multisystem Inflammatory Disea...
متن کاملPReS-FINAL-2199: A novel mutation in the CIAS1/NLRP3 gene associated with an unusual phenotype of CAPS
Introduction Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory syndrome caused by heterozygous mutations of CIAS1/NLRP3 gene. Affected patients may present three different phenotypes: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and CINCA syndrome. Common symptoms include sporadic or cold-induced non pruritic urticarial rash and fever. Severe cases su...
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