Monogenic Auto-Inflammatory Syndromes: A Review of the Literature Pubmed



Azizi G^{1, 2} ; Azarian SK³ ; Nazeri S³ ; Mosayebian A⁴ ; Ghiasy S² ; Sadri G² ; Mohebbi A⁵ ; Nazer NHK⁶ ; Afraei S³ ; Mirshafiey A³
Source: Iranian Journal of Allergy# Asthma and Immunology Published:2016

Abstract

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. © Copyright Autumn 2016, Iran J Allergy Asthma Immunol. All rights reserved.