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

Monogenic Auto-inﬂammatory Syndromes: A Review of the Literature

Iran J Allergy Asthma Immunol. 2016 Dec;15(6):430-444.

Authors

Affiliations

¹ 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.
² Department of Immunology, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran.
³ Department of Immunology, School of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.
⁴ Research Centre for Immunodeficiencies, Pediatrics Centre of Excellence, Children's Medical Centre, Tehran University of Medical Sciences, Tehran, Iran.
⁵ Growth and Development Research Centre, Children's Medical Centre, Tehran, University of Medical Sciences, Tehran, Iran.
⁶ Department of Immunology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

PMID: 28129677

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.

Keywords: Auto-inﬂammatory syndrome; Fever; Inflammation; Innate immune response.

Publication types

Review

MeSH terms

Acne Vulgaris / drug therapy
Acne Vulgaris / genetics
Acne Vulgaris / immunology
Antirheumatic Agents / therapeutic use
Arthritis / drug therapy
Arthritis / genetics
Arthritis / immunology
Arthritis, Infectious / drug therapy
Arthritis, Infectious / genetics
Arthritis, Infectious / immunology
Cryopyrin-Associated Periodic Syndromes / drug therapy
Cryopyrin-Associated Periodic Syndromes / genetics
Cryopyrin-Associated Periodic Syndromes / immunology
Familial Mediterranean Fever / drug therapy
Familial Mediterranean Fever / genetics
Familial Mediterranean Fever / immunology
Hereditary Autoinflammatory Diseases / drug therapy
Hereditary Autoinflammatory Diseases / genetics
Hereditary Autoinflammatory Diseases / immunology*
Humans
Immunity, Innate / immunology
Infliximab / therapeutic use
Interleukin 1 Receptor Antagonist Protein / therapeutic use
Interleukin-1 / immunology*
Macrophages / immunology*
Mevalonate Kinase Deficiency / drug therapy
Mevalonate Kinase Deficiency / genetics
Mevalonate Kinase Deficiency / immunology
Monocytes / immunology*
Pyoderma Gangrenosum / drug therapy
Pyoderma Gangrenosum / genetics
Pyoderma Gangrenosum / immunology
Sarcoidosis
Synovitis / drug therapy
Synovitis / genetics
Synovitis / immunology
Uveitis / drug therapy
Uveitis / genetics
Uveitis / immunology

Substances

Antirheumatic Agents
Interleukin 1 Receptor Antagonist Protein
Interleukin-1
Infliximab

Supplementary concepts

Blau syndrome
Pyogenic arthritis, pyoderma gangrenosum, and acne