Clinical and Molecular Genetic Features of Autoinflammatory Syndromes in Children
نویسندگان
چکیده
منابع مشابه
Diversity 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 (...
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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...
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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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15 صفحه اولAmyloidosis in autoinflammatory syndromes.
AA amyloidosis may still dramatically impact on the outcome of patients with autoinflammatory diseases, particularly when diagnosis is delayed. Clinicians should maintain a high level of attention to identify early this severe complication. Initial signs mostly reflect kidney damage, with proteinuria, with or without renal failure, being the more frequent presenting feature. If SAA levels are n...
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ژورنال
عنوان ژورنال: Current pediatrics
سال: 2015
ISSN: 1682-5535
DOI: 10.15690/vsp.v14i3.1372