EULAR study group on ‘MHC-I-opathy’: identifying disease-overarching mechanisms across disciplines and borders
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Published:2023-03-27
Issue:7
Volume:82
Page:887-896
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ISSN:0003-4967
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Container-title:Annals of the Rheumatic Diseases
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language:en
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Short-container-title:Ann Rheum Dis
Author:
Kuiper Jonas JWORCID, Prinz Jörg C, Stratikos Efstratios, Kuśnierczyk Piotr, Arakawa Akiko, Springer Sebastian, Mintoff DillonORCID, Padjen Ivan, Shumnalieva Russka, Vural Seçil, Kötter Ina, van de Sande Marleen G, Boyvat Ayşe, de Boer Joke H, Bertsias George, de Vries Niek, Krieckaert Charlotte LMORCID, Leal Inês, Vidovič Valentinčič Nataša, Tugal-Tutkun Ilknur, el Khaldi Ahanach Hanane, Costantino Félicie, Glatigny Simon, Mrazovac Zimak Danijela, Lötscher Fabian, Kerstens Floor G, Bakula Marija, Viera Sousa ElsaORCID, Böhm Peter, Bosman Kees, Kenna Tony J, Powis Simon J, Breban MaximeORCID, Gul Ahmet, Bowes JohnORCID, Lories Rik JUORCID, Nowatzky Johannes, Wolbink Gerrit Jan, McGonagle Dennis G, Turkstra FranktienORCID
Abstract
The ‘MHC-I (major histocompatibility complex class I)-opathy’ concept describes a family of inflammatory conditions with overlapping clinical manifestations and a strong genetic link to the MHC-I antigen presentation pathway. Classical MHC-I-opathies such as spondyloarthritis, Behçet’s disease, psoriasis and birdshot uveitis are widely recognised for their strong association with certain MHC-I alleles and gene variants of the antigen processing aminopeptidases ERAP1 and ERAP2 that implicates altered MHC-I peptide presentation to CD8+T cells in the pathogenesis. Progress in understanding the cause and treatment of these disorders is hampered by patient phenotypic heterogeneity and lack of systematic investigation of the MHC-I pathway.Here, we discuss new insights into the biology of MHC-I-opathies that strongly advocate for disease-overarching and integrated molecular and clinical investigation to decipher underlying disease mechanisms. Because this requires transformative multidisciplinary collaboration, we introduce the EULAR study group on MHC-I-opathies to unite clinical expertise in rheumatology, dermatology and ophthalmology, with fundamental and translational researchers from multiple disciplines such as immunology, genomics and proteomics, alongside patient partners. We prioritise standardisation of disease phenotypes and scientific nomenclature and propose interdisciplinary genetic and translational studies to exploit emerging therapeutic strategies to understand MHC-I-mediated disease mechanisms. These collaborative efforts are required to address outstanding questions in the etiopathogenesis of MHC-I-opathies towards improving patient treatment and prognostication.
Subject
General Biochemistry, Genetics and Molecular Biology,Immunology,Immunology and Allergy,Rheumatology
Cited by
11 articles.
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