Bone involvement in monogenic autoinflammatory syndromes
نویسندگان
چکیده
منابع مشابه
Monogenic autoinflammatory diseases.
During the past 15 years, a growing number of monogenic inflammatory diseases have been described and their respective responsible genes identified. The proteins encoded by these genes are involved in the regulatory pathways of inflammation and are mostly expressed in cells of the innate immune system. Diagnosis remains clinical, with genetic confirmation where feasible. Although a group of pat...
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...
متن کاملAmyloidosis 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...
متن کاملMonogenic Autoinflammatory Syndromes: State of the Art on Genetic, Clinical, and Therapeutic Issues
Monogenic autoinflammatory syndromes (MAISs) are caused by innate immune system dysregulation leading to aberrant inflammasome activation and episodes of fever and involvement of skin, serous membranes, eyes, joints, gastrointestinal tract, and nervous system, predominantly with a childhood onset. To date, there are twelve known MAISs: familial Mediterranean fever, tumor necrosis factor recepto...
متن کاملPediatric hereditary autoinflammatory syndromes.
OBJECTIVE To describe the most prevalent pediatric hereditary autoinflammatory syndromes. SOURCES A review of the literature including relevant references from the PubMed and SciELO was carried out using the keywords autoinflammatory syndromes and child. SUMMARY OF THE FINDINGS The hereditary autoinflammatory syndromes are caused by monogenic defects of innate immunity and are classified as...
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ژورنال
عنوان ژورنال: Rheumatology
سال: 2017
ISSN: 1462-0324,1462-0332
DOI: 10.1093/rheumatology/kex306