microRNAs (miRNAs) are small non-coding RNA sequences that negatively regulate the expression of protein-encoding genes at the post-transcriptional level. They play a role in the regulation of inflammatory responses by controlling the proliferation and activation of immune cells and their expression is disrupted in several immune-mediated inflammatory disorders. Among these, autoinflammatory diseases (AID) are a group of rare hereditary disorders caused by abnormal activation of the innate immune system and characterized by recurrent fevers. Major groups of AID are inflammasomopathies, which are associated with hereditary defects in the activation of inflammasomes, cytosolic multiprotein signaling complexes regulating IL-1 family cytokine maturation and pyroptosis. The study of the role of miRNAs in AID is only recently emerging and remains scarce in inflammasomopathies. In this review, we describe the AID and inflammasomopathies, and the current knowledge on the role of miRNAs in disease processes.
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http://dx.doi.org/10.1016/j.imlet.2023.04.001 | DOI Listing |
J Allergy Clin Immunol Pract
December 2024
Sorbonne University, Department of Internal Medicine, DMU3ID, Hôpital Tenon, Assistance publique-hôpitaux de Paris (AP-HP), 4 rue de la Chine, 75020 Paris, France; Reference Center for Autoinflammatory Diseases and Inflammatory Amyloidosis (CEREMAIA). Electronic address:
Autoinflammatory diseases (AIDs) are characterized by dysregulation of innate immunity, leading to systemic inflammation. Familial Mediterranean fever (FMF) is the most common AID, associated with variants in exon 10 of MEFV. This gene codes for pyrin, a key protein in the inflammasome of the same name, involved in the innate immune response.
View Article and Find Full Text PDFImmunol Lett
May 2023
Institute for Regenerative Medicine and Biotherapy, INSERM, U1183, University of Montpellier, Montpellier, France; Clinical Department for Osteoarticular Diseases, University Hospital Lapeyronie, Montpellier, France. Electronic address:
microRNAs (miRNAs) are small non-coding RNA sequences that negatively regulate the expression of protein-encoding genes at the post-transcriptional level. They play a role in the regulation of inflammatory responses by controlling the proliferation and activation of immune cells and their expression is disrupted in several immune-mediated inflammatory disorders. Among these, autoinflammatory diseases (AID) are a group of rare hereditary disorders caused by abnormal activation of the innate immune system and characterized by recurrent fevers.
View Article and Find Full Text PDFOrphanet J Rare Dis
June 2022
Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Background: NLRP3-associated autoinflammatory disease (NLRP3-AID), caused by mutations of NLRP3, is one of the autoinflammatory diseases affecting inflammasomes. Since there are little cases of Chinese NLRP3-AID, we reported 14 Chinese NLRP3-AID patients in our center and summarized the clinical features of all Chinese patients by reviewing the literature.
Results: Fourteen patients had been diagnosed as NLRP3-AID in our center.
Expert Rev Clin Immunol
July 2022
Hematopoietic Stem Cell Transplantation Unit, Department of Hematology-Oncology, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Introduction: Primary immune regulatory disorders encompass a range of clinical conditions caused by different defects of immune regulatory mechanisms, including systemic autoinflammatory diseases (AIDs). Allogeneic hematopoietic stem cell transplantation may be a therapeutic option for AIDs, particularly if response to conventional treatments is lacking.
Areas Covered: HSCT has been reported as a possible therapeutic option in several AID subgroups, namely, inflammasomopathies, immuno-proteinopathies,actinopathies, relopathies, interferonopathies, and Adenosine Deaminase 2 deficiency.
Front Immunol
May 2021
Department of Pediatrics, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.
Monogenic autoinflammatory diseases (AIDs) are inborn disorders caused by innate immunity dysregulation and characterized by robust autoinflammation. We aimed to present the phenotypes and genotypes of Chinese pediatric monogenic AID patients. A total of 288 pediatric patients clinically suspected to have monogenic AIDs at the Department of Pediatrics of Peking Union Medical College Hospital between November 2008 and May 2019 were genotyped by Sanger sequencing, and/or gene panel sequencing and/or whole exome sequencing.
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