PW02-002 - Single MVK mutation and recurrent fevers
نویسندگان
چکیده
منابع مشابه
PW02-002 - Single MVK mutation and recurrent fevers
Results 31 pts with mutations in MVK were evaluated: 22 had 2 mutations (21 with V377I and 1 other mutation; 1 with V203A/H380R), 9 had only 1 mutation after testing the whole gene (8 with V377I, 1 with I268V). The carrier frequency of V377I in our control Caucasian population is 0.3% (2/739). In contrast, in 344 independent cases of recurrent fever submitted for MVK testing, 8 bore a single co...
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Methods After detailed clinical characterization including funduscopy and optic coherence tomography, exome sequencing analysis was performed in a proband of Dutch origin with non-syndromic autosomal recessive RP. Identified mutations were tested for segregation within the family and in a large cohort of genetically unsolved RP patients. Upon identification of mutations in MVK, encoding mevalon...
متن کاملPReS13-SPK-1588: Recurrent fevers
Fevers are common in childhood, usually due to infections. Some children however experience recurrent episodes of seemingly unprovoked fevers. These so-called periodic fever syndromes are rare diseases. Clinically they are characterized by generalized inflammation and different combinations of localized tissue inflammation. Skin and joints are often affected in these patients and the long-stand...
متن کاملPW02-022 - Recurrent fever syndromes: multiple gene mutations
Methods Seventy-seven centres from 33 countries have been contributing to an international secured web-based registry for autoinflammatory diseases (EUROFEVER), hosted by the PRINTO website (Paediatric Rheumatology International Trial Organisation, http://www.printo.it). The registry collects anonymised demographic, clinical, laboratory and molecular genetic data on patients with autoinflammato...
متن کاملHyper-IgD and periodic fever syndrome: a new MVK mutation (p.R277G) associated with a severe phenotype.
Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS; MIM# 260920) is a rare recessively-inherited autoinflammatory condition caused by mutations in the MVK gene, which encodes for mevalonate kinase, an essential enzyme in the isoprenoid pathway. HIDS is clinically characterized by recurrent episodes of fever and inflammation. Here we report on the case of a 2 year-old Portuguese boy wit...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a142