title: Monogenic Auto-inﬂammatory Syndromes: A Review of the Literature.
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.
authors.affiliation: 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.
authors.forename: Gholamreza
authors.initials: G
authors.lastname: Azizi
authors.affiliation: Department of Immunology, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Shahin
authors.initials: S
authors.lastname: Khadem Azarian
authors.affiliation: Department of Immunology, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Sepideh
authors.initials: S
authors.lastname: Nazeri
authors.affiliation: Department of Immunology, School of Medicine, Mazandaran University of Medical Sciences, Sari, Iran.
authors.forename: Ali
authors.initials: A
authors.lastname: Mosayebian
authors.affiliation: Research Centre for Immunodeficiencies, Pediatrics Centre of Excellence, Children's Medical Centre, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Saleh
authors.initials: S
authors.lastname: Ghiasy
authors.affiliation: Research Centre for Immunodeficiencies, Pediatrics Centre of Excellence, Children's Medical Centre, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Ghazal
authors.initials: G
authors.lastname: Sadri
authors.affiliation: Growth and Development Research Centre, Children's Medical Centre, Tehran, University of Medical Sciences, Tehran, Iran.
authors.forename: Ali
authors.initials: A
authors.lastname: Mohebi
authors.affiliation: Department of Immunology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Nikoo Hossein
authors.initials: NH
authors.lastname: Khan Nazer
authors.affiliation: Department of Immunology, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Sanaz
authors.initials: S
authors.lastname: Afraei
authors.affiliation: Department of Immunology, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Abbas
authors.initials: A
authors.lastname: Mirshafiey
mesh_terms: D000152:Acne Vulgaris / Q000188:drug therapy / Q000235:genetics / Q000276:immunology; D018501:Antirheumatic Agents / Q000627:therapeutic use; D001168:Arthritis / Q000188:drug therapy / Q000235:genetics / Q000276:immunology; D001170:Arthritis, Infectious / Q000188:drug therapy / Q000235:genetics / Q000276:immunology; D056587:Cryopyrin-Associated Periodic Syndromes / Q000188:drug therapy / Q000235:genetics / Q000276:immunology; D010505:Familial Mediterranean Fever / Q000188:drug therapy / Q000235:genetics / Q000276:immunology; D056660:Hereditary Autoinflammatory Diseases / Q000188:drug therapy / Q000235:genetics / Q000276:immunology*; D006801:Humans; D007113:Immunity, Innate / Q000276:immunology; D000069285:Infliximab / Q000627:therapeutic use; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use; D007375:Interleukin-1 / Q000276:immunology*; D008264:Macrophages / Q000276:immunology*; D054078:Mevalonate Kinase Deficiency / Q000188:drug therapy / Q000235:genetics / Q000276:immunology; D009000:Monocytes / Q000276:immunology*; D017511:Pyoderma Gangrenosum / Q000188:drug therapy / Q000235:genetics / Q000276:immunology; D012507:Sarcoidosis; D013585:Synovitis / Q000188:drug therapy / Q000235:genetics / Q000276:immunology; D014605:Uveitis / Q000188:drug therapy / Q000235:genetics / Q000276:immunology
chemical_list: D018501:Antirheumatic Agents; D053590:Interleukin 1 Receptor Antagonist Protein; D007375:Interleukin-1; D000069285:Infliximab
keywords: Auto-inﬂammatory syndrome; Fever; Inflammation; Innate immune response