EULAR study group on 'MHC-I-opathy'
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EULAR study group on 'MHC-I-opathy' : identifying disease-overarching mechanisms across disciplines and borders. / Kuiper, Jonas Jw; Prinz, Jörg C; Stratikos, Efstratios; Kuśnierczyk, Piotr; Arakawa, Akiko; Springer, Sebastian; Mintoff, Dillon; 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 Lm; 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, Elsa; Böhm, Peter; Bosman, Kees; Kenna, Tony J; Powis, Simon J; Breban, Maxime; Gul, Ahmet; Bowes, John; Lories, Rik Ju; Nowatzky, Johannes; Wolbink, Gerrit Jan; McGonagle, Dennis G; Turkstra, Franktien; EULAR studygroup MHC-I-opathies.
In: ANN RHEUM DIS, Vol. 82, No. 7, 07.2023, p. 887-896.Research output: SCORING: Contribution to journal › SCORING: Review article › Research
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TY - JOUR
T1 - EULAR study group on 'MHC-I-opathy'
T2 - identifying disease-overarching mechanisms across disciplines and borders
AU - Kuiper, Jonas Jw
AU - Prinz, Jörg C
AU - Stratikos, Efstratios
AU - Kuśnierczyk, Piotr
AU - Arakawa, Akiko
AU - Springer, Sebastian
AU - Mintoff, Dillon
AU - Padjen, Ivan
AU - Shumnalieva, Russka
AU - Vural, Seçil
AU - Kötter, Ina
AU - van de Sande, Marleen G
AU - Boyvat, Ayşe
AU - de Boer, Joke H
AU - Bertsias, George
AU - de Vries, Niek
AU - Krieckaert, Charlotte Lm
AU - Leal, Inês
AU - Vidovič Valentinčič, Nataša
AU - Tugal-Tutkun, Ilknur
AU - El Khaldi Ahanach, Hanane
AU - Costantino, Félicie
AU - Glatigny, Simon
AU - Mrazovac Zimak, Danijela
AU - Lötscher, Fabian
AU - Kerstens, Floor G
AU - Bakula, Marija
AU - Viera Sousa, Elsa
AU - Böhm, Peter
AU - Bosman, Kees
AU - Kenna, Tony J
AU - Powis, Simon J
AU - Breban, Maxime
AU - Gul, Ahmet
AU - Bowes, John
AU - Lories, Rik Ju
AU - Nowatzky, Johannes
AU - Wolbink, Gerrit Jan
AU - McGonagle, Dennis G
AU - Turkstra, Franktien
AU - EULAR studygroup MHC-I-opathies
N1 - © Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
PY - 2023/7
Y1 - 2023/7
N2 - 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.
AB - 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.
KW - Humans
KW - Genetic Predisposition to Disease
KW - Uveitis
KW - Behcet Syndrome/genetics
KW - Histocompatibility Antigens Class I/genetics
KW - Spondylarthritis
KW - Aminopeptidases/genetics
KW - Minor Histocompatibility Antigens/genetics
U2 - 10.1136/ard-2022-222852
DO - 10.1136/ard-2022-222852
M3 - SCORING: Review article
C2 - 36987655
VL - 82
SP - 887
EP - 896
JO - ANN RHEUM DIS
JF - ANN RHEUM DIS
SN - 0003-4967
IS - 7
ER -