Spectrum of Genetic Autoinflammatory Diseases Presenting with Cutaneous Symptoms.
Spectrum of Genetic Autoinflammatory Diseases Presenting with Cutaneous Symptoms.
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DOI：
10.2340/00015555-3427
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发表时间：
2020-03-25
影响因子：
3.6
通讯作者：
中科院分区：
文献类型：
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自身炎症性疾病包括一组慢性致残实体，其特征是炎症，而不存在感染性因子、自身抗体或抗原特异性t细胞。许多自身炎症疾病是由单基因缺陷引起的，单基因缺陷导致免疫信号紊乱，释放促炎介质。除了白细胞介素-1β和白细胞介素-18外，干扰素在这些疾病的病理生理中起着关键作用。自体炎症性疾病患者表现出多种临床症状，包括皮肤受累。皮疹、脓疱和溃疡性病变是最常见的皮肤表现。了解自身炎症性疾病的临床表现对于确定诊断和指导适当的治疗至关重要。本文综述了基于自身炎症性疾病不同病理机制的皮肤病学研究结果。
Autoinflammatory diseases comprise a group of chronic disabling entities characterized by inflammation without the presence of infectious agents, auto-antibodies or antigen-specific T-cells. Many autoinflammatory diseases are caused by monogenic defects, which lead to disturbed immune signalling with release of proinflammatory mediators. In addition to interleukin-1β and interleukin-18, interferons play a key role in the pathophysiology of these disorders. Patients with autoinflammatory diseases show a broad variety of clinical symptoms, including skin involvement. Wheals, pustules and ulcerative lesions are the most common cutaneous findings observed. Knowledge of the clinical presentation of autoinflammatory diseases is crucial for establishing the diagnosis and guiding appropriate treatment. This review focuses on the dermatological findings in selected autoinflammatory disorders based on their distinct pathomechanisms.