Azizi Gholamreza, Khadem Azarian Shahin, Nazeri Sepideh, Mosayebian Ali, Ghiasy Saleh, Sadri Ghazal, Mohebi Ali, Khan Nazer Nikoo Hossein, Afraei Sanaz, Mirshafiey Abbas
Department of Laboratory Medicine, Imam Hassan Mojtaba Hospital, Alborz University of Medical Sciences, Karaj, Iran AND Research Centre for Immunodeficiencies, Pediatrics Centre of Excellence, Children's Medical Centre, Tehran University of Medical Sciences, Tehran, Iran.
Department of Immunology, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran.
Iran J Allergy Asthma Immunol. 2016 Dec;15(6):430-444.
Auto-inflammatory syndromes are a new group of distinct hereditable disorders characterized by episodes of seemingly unprovoked inflammation (most commonly in skin, joints, gut, and eye), the absence of a high titer of auto-antibodies or auto-reactive T cells, and an inborn error of innate immunity. A narrative literature review was carried out of studies related to auto-inflammatory syndromes to discuss the pathogenesis and clinical manifestation of these syndromes. This review showed that the main monogenic auto-inflammatory syndromes are familial Mediterranean fever (FMF), mevalonate kinase deficiency (MKD), Blau syndrome, TNF receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS), and pyogenic arthritis with pyoderma gangrenosum and acne (PAPA). The data suggest that correct diagnosis and treatment of monogenic auto-inflammatory diseases relies on the physicians' awareness. Therefore, understanding of the underlying pathogenic mechanisms of auto-inflammatory syndromes, and especially the fact that these disorders are mediated by IL-1 secretion stimulated by monocytes and macrophages, facilitated significant progress in patient management.
自身炎症性综合征是一组新的独特的遗传性疾病，其特征为出现看似无诱因的炎症发作（最常见于皮肤、关节、肠道和眼睛）、缺乏高滴度自身抗体或自身反应性T细胞，以及先天性免疫缺陷。对与自身炎症性综合征相关的研究进行了叙述性文献综述，以探讨这些综合征的发病机制和临床表现。该综述表明，主要的单基因自身炎症性综合征包括家族性地中海热（FMF）、甲羟戊酸激酶缺乏症（MKD）、布劳综合征、肿瘤坏死因子受体相关周期性综合征（TRAPS）、冷吡啉相关周期性综合征（CAPS）以及伴有坏疽性脓皮病和痤疮的化脓性关节炎（PAPA）。数据表明，单基因自身炎症性疾病的正确诊断和治疗依赖于医生的认识。因此，对自身炎症性综合征潜在致病机制的理解，尤其是这些疾病由单核细胞和巨噬细胞刺激分泌白细胞介素-1介导这一事实，促进了患者管理方面的显著进展。
