P02-024 - Clinical impact of V198M mutation in NLRP3 gene
نویسندگان
چکیده
منابع مشابه
P02-024 - 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 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 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 کاملP02-025 - 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 کاملThe clinical phenotype of Israeli patients with Q703K mutation in the NLRP3 gene
Results Seven female and 3 male patients with a mean age of 22.5±17.8 years and a mean diagnosis delay of 12.4 years were identified. Their clinical characteristics ranged from self resolving attacks of fever, urticaria and arthralgia to a chronic, debilitating steroid-dependent inflammatory disease. Splenomegaly, transfusion-dependent anemia, sensory neuropathy and pericarditis, manifestations...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a131