PW02-016 - 41 cases of TRAPS, a rare autoinflammatory disease
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چکیده
منابع مشابه
PW02-016 - 41 cases of TRAPS, a rare autoinflammatory disease
Results We have included 25 children and 16 adults (isolated cases and 9 families), coming from France (45%), south of Europe (22%), north of Europe (10%), Maghreb (9%), east of Europe (6%). 19,5% of the patients have had an appendectomy. 26 patients have recurrent fever in their family, among which 22 have TRAPS. Two kids have homozygous mutation for MEFV and one heterozygous. The disease star...
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Introduction Autoinflammatory syndromes are a group of rare conditions that cause intermittent episodes of fever and organ system inflammation. The majority of these conditions have been linked to single gene mutations that are involved in the acute inflammatory response. Many of these monogenic disorders, such as Familial Mediterranean Fever (FMF) and Hyper IgD syndrome (HIDS), are more preval...
متن کاملPW02-023 - Qualitative aspects of autoinflammatory diseases
Introduction In pediatric rheumatology, the lack of scales showing activities of illness in the patients groups, the absence of biomarkers for the severity of damage led the scientific world to develop a scale where the patient can make an self-assessment with quantitative results. So, a necessity has been occurred to develop a multidimensional scale which is understandable, applicable and comp...
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Methods Samples were prepared at the NIH Intramural Sequencing Center using one of four different exome capture kits, and libraries were sequenced on the Illumina HiSeq 2000 platform using 2x100 bp paired-end reads, to an average depth of coverage in the target intervals of 68X across all samples, and with an average of 89% of target bases producing high-confidence calls. The raw data are analy...
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Introduction Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an autoinflammatory disease inherited in an autosomal dominant fashion. TRAPS develops secondary to mutations in TNFRSF1A. Associated symptoms include periodic attacks of peritonitis, constipation, arthritis in large joints, arthralgia, migratory rash with underlying myalgia, periorbital edema, conjunctivitis, s...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a156