Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share this content! On (X network) By
Monogenic Auto-Inflammatory Syndromes: A Review of the Literature Pubmed



Azizi G1, 2 ; Azarian SK3 ; Nazeri S3 ; Mosayebian A4 ; Ghiasy S2 ; Sadri G2 ; Mohebbi A5 ; Nazer NHK6 ; Afraei S3 ; Mirshafiey A3
Authors
Show Affiliations
Authors Affiliations
  1. 1. Department of Laboratory Medicine, Imam Hassan Mojtaba Hospital, Alborz University of Medical Sciences, Karaj, Iran
  2. 2. Research Centre for Immunodeficiencies, Pediatrics Centre of Excellence, Children's Medical Centre, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Department of Immunology, School of Public Health, Tehran University of Medical Sciences, Box: 14155-6446, Tehran, Iran
  4. 4. Department of Immunology, School of Medicine, Mazandaran University of Medical Sciences, Sari, Iran
  5. 5. Growth and Development Research Centre, Children's Medical Centre, Tehran University of Medical Sciences, Tehran, Iran
  6. 6. Department of Immunology, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran

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.
Related Docs
1. Autoinflammatory Disorders, Translational Autoimmunity: Autoimmune Diseases in Different Organs (2022)
2. Approach to the Management of Autoimmunity in Primary Immunodeficiency, Scandinavian Journal of Immunology (2017)
3. A Case of H Syndrome With a Novel Mutation in Slc29a3, Meta Gene (2019)
4. Rheumatologic Manifestations of Autoinflammatory Diseases, Translational Autoimmunity: Volume 6: Advances in Autoimmune Rheumatic Diseases (2023)
5. Multimodality Imaging of Constrictive Pericarditis in H Syndrome, Echocardiography (2021)
6. Clinicogenetic Characterisation of Slc29a3-Related Syndromes: A Case Series, Tracing Ancestral Variants and Molecular Dynamics Simulation, Journal of Medical Genetics (2025)
7. Caspase-1 Inhibition Prevents Glial Inflammasome Activation and Pyroptosis in Models of Multiple Sclerosis, Proceedings of the National Academy of Sciences of the United States of America (2018)
Experts (# of related papers)
View all Related Experts
Nima Rezaei (3)
Vahid Ziaee (3)