monogenic autoinflammatory syndromes: a review of the literature

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.