P03-002 - Different phenotypes associated with Q703K variant
نویسندگان
چکیده
Introduction PFAPA syndrome is characterized by recurrent fever with aphtosis, pharyngitis and cervical adenitis. It is suspected to be an auto-inflammatory disease (AID). For some AID, a monogenic origin has been established in the past years. In PFAPA no clear aetiology has been found yet. However in some patients variants in the NLRP3 gene can be found. The variant Q703K was described so far in patients with CAPS as well as healthy carriers.
منابع مشابه
PReS-FINAL-2325: Different phenotypes associated with Q703K variant of the NLRP3 gene
Results We found the NLRP3 variant Q703K in 13 patients. Ten were PFAPA patients among 97 from our cohort; one had a CAPS phenotype and two an undefined autoinflammatory disease (UAID): 9 boys and 4 girls with a median age of 18 months at disease onset. Family history was positive in 6 PFAPA and one UAID patients. For PFAPA, the median duration of fever was 4 days; the median interval was 4 wee...
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متن کاملPReS-FINAL-2196: The clinical significance of the Q703K mutation of NLRP3 gene. A multicentric national study
Results The Q703K mutation was found in the 35 screened patients (pediatric 17 vs adult 18, with the mean age was 23,7 years, range 3-64). The mean age at onset was 21,5 years (range 0,5-57). Thirty patients were heterozygous for theQ703K mutation only. Two pts displayed other mutations of NLRP3 gene (M604I in one CINCA and D303N and V198M in a MWS). Three patients display a monoallelic variant...
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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...
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∗Work supported by the Ministry of Science of Slovenia and by the Ministry of Science and Technology of India under the bilateral India-Slovenia grants BI-IN/06-07-002 and DST/INT/SLOV-P03/05, respectively.
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