PReS-FINAL-2199: A novel mutation in the CIAS1/NLRP3 gene associated with an unusual phenotype of CAPS
نویسندگان
چکیده
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 suffers from deafness, meningitis, articular contracture and secondary amyloidosis.
منابع مشابه
PReS-FINAL-2241: Cases of cryopyrin-associated periodic syndromes (CAPS) in one single rheumatologic center of Russia
Introduction Cryopyrin-associated periodic syndromes (CAPS) are the rare hereditary autoinflammatory diseases. CAPS include three similar conditions are distinguished which lie along a phenotypical continuum with increasing levels of severity: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and CINCA/ NOMID. Distinguishing features include cutaneous, neurological, op...
متن کاملDisease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-associated periodic syndrome patients. Running head: CIAS1 mosaicism in CAPS patients
Cryopyrin-associated periodic syndrome (CAPS) is a spectrum of systemic autoinflammatory disorders in which the majority of patients have mutations in the cold-induced autoinflammatory syndrome (CIAS)1 gene. Despite having indistinguishable clinical features, some patients lack CIAS1 mutations by conventional nucleotide sequencing. We recently reported a CAPS patient with mosaicism of mutant CI...
متن کاملP02-032 - CAPS: a novel mutation and an unusual phenotype
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 cas...
متن کاملPReS-FINAL-2200: Phenotype of V198M and Q703K NLRP3 variants
Introduction The term CAPS (Cryopyrin-Associated Periodic Syndromes) identifies a spectrum of autoinflammatory diseases caused by heterozygous mutations of the CIAS1/NLRP3. Affected individuals may present three different phenotypes: Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS) and CINCA syndrome, the most severe form of the clinical spectrum. Clinical manifestati...
متن کاملPReS-FINAL-2240: Serum amyloid protein a concentration in CAPS patients treated with anti IL1Β
Introduction Although all patients with chronic inflammatory conditions are at risk for developing type AA amyloidosis, the incidence varies widely between the different Autoinflammatory syndromes. The reported incidence is about 35% of patients with CAPS (cryopyrin-associated periodic syndrome) which comprises familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and CINCA (chr...
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