Monogenic Auto-inflammatory Syndromes: A Review of the Literature
-
Gholamreza Azizi
,
Shahin Khadem Azarian
,
Sepideh Nazeri
,
Ali Mosayebian
,
Saleh Ghiasy
,
Ghazal Sadri
,
Ali Mohebi
,
Nikoo Hossein Khan Nazer
,
Sanaz Afraei
,
Abbas Mirshafiey
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.
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| Issue | Vol 15, No 6 (2016) | |
| Section | Review Article(s) | |
| Keywords | ||
| Auto-inflammatory syndrome Fever Inflammation Innate immune response | ||
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