P02-025 - Homozygous Q705K sequence variant in NLRP3
نویسندگان
چکیده
منابع مشابه
P02-025 - Homozygous Q705K sequence variant in NLRP3
Case Report The patient, a 12-year-old boy with healthy parents, experienced his first long febrile episode, associated with abdominal pain, aseptic meningitis, spleenitis and increased inflammatory markers, at the age of 2.5 years. The patient was given corticosteroids, and responded well. After the age of three years, the patient developed recurrent febrile episodes (approximately twice a yea...
متن کاملP02-024 - Clinical impact of V198M mutation in NLRP3 gene
Results The V198M mutation was found in 13 screened patients: 10 were heterozygous for the mutation only. In one patient with a typical MWS phenotype the V198M variant was associated with the Q703K and the D303N mutation of the same gene. In a patient a low-penetrance mutation of TNFRSF1A gene (P46L) was also found, while another one carried the A91V mutation of Pfr1 gene. Out of the 10 patient...
متن کاملPW02-025 - Programme necrosis by CAPS-associated NLRP3
Introduction Cryopyrin-associated periodic syndrome (CAPS), clinically characterized by neutrophil-rich urticarial rash, is associated with missense mutations in NLRP3. NLRP3 is a pattern recognition receptor in the cytoplasm of cells and structurally related to plant resistance proteins, which detect pathogenor danger-associated signals, leading to programmed cell death and hyper response at t...
متن کاملP02-031 - 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 manifestat...
متن کاملSingle nucleotide polymorphism of NLRP3 (Q705K) In juvenile spondyloarthritis and oligo/ polyarticular juvenile idiopathic arthritis
Introduction The NLRP3 inflammasome is a key component of the innate immune system serving as an intracellular sensor of microbial components and cell injury. Gain-of-function mutations of the NLRP3 gene, such as single nucleotide polymorphism (SNP) Q705K, lead to autoproteolytic activation of caspase 1, resulting in excessive and uncontrolled production of proinflammatory cytokines. This may r...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a132