PW02-004 - Autoinflammatory syndromes: a clinical review
نویسندگان
چکیده
منابع مشابه
PW02-004 - Autoinflammatory syndromes: a clinical review
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...
متن کاملPW02-001 - Exome sequencing for autoinflammatory disorders
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...
متن کاملDiversity in clinical manifestations of autoinflammatory syndromes
Results Fifty six patients were included: 17 CAPS, 4 TRAPS, 5 HIDS, 18 FMF, 6 CRMO, 2 SAPHO and 4 Behcet. The median follow-up period was 2 years (0-14 years). The male/female ratio was 20/36. The median age was 2.5 years at disease onset and 4 years at diagnosis. Family history was positive in 34% of patients. Clinical manifestations included fever (79%), mucocutaneous (61%), musculoskeletal (...
متن کاملAutoinflammatory syndromes.
There has been an expansion of the autoinflammatory syndromes due to the discovery of new diseases related to mutations in genes regulating the innate immune system and the knowledge gained from these diseases as applied to more common nongenetic inflammatory conditions. Autoinflammatory syndromes are characterized by unprovoked (or triggered by minor events) recurrent episodes of systemic infl...
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ژورنال
عنوان ژورنال: Pediatric Rheumatology
سال: 2013
ISSN: 1546-0096
DOI: 10.1186/1546-0096-11-s1-a144