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• W3139562762 abstract "Although haemophilia A is a model monogenic disease, there is a wide interpatient variability of basic clinical features such as bleeding phenotype, therapeutic FVIII coagulation factor pharmacokinetics or the generation of antibodies neutralizing FVIII (‘inhibitor’). Apart from modifiable factors such as the mode of treatment, this is explained by the presence of a wide catalogue of causative F8 defects that are not equally deleterious as well as the impact of normal population variation in other genes [ [1] Mahlangu J.N. Blanchette V. Klamroth R. Redefining prophylaxis in the modern era. Haemophilia. 2020; 27: 21-27 PubMed Google Scholar , [2] Garagiola I. Palla R. Peyvandi F. Risk factors for inhibitor development in severe hemophilia a. Thromb. Res. 2018; 168: 20-27 Abstract Full Text Full Text PDF PubMed Scopus (48) Google Scholar ]. We previously provided a first larger description of the genetic epidemiology of severe haemophilia A in Poland. In that study we reported comprehensive analysis of 101 boys with severe haemophilia A in Poland and, apart from documenting recurrent disease-associated pathogenic variants, we reported 19 novel likely pathogenic variants expanding the catalogue of known F8 gene mutations [ [3] Janczar S. Babol-Pokora K. Jatczak-Pawlik I. Wypyszczak K. Klukowska A. Laguna P. Kostrzewska M. Wegner O. Zielinski J. Koltan A. et al. Recurrent and novel disease-causing F8 variants in boys with severe haemophilia A in Poland. Haemophilia. 2019; 25: e311-e314 PubMed Google Scholar ]. The impact of variation outside of F8 on haemophilia phenotype has been studied for a long time, and currently there is a growing understanding that full genetic investigation in haemophilia, may aid most effective and potentially personalized treatment especially in view of the emerging therapeutic heterogeneity [ [1] Mahlangu J.N. Blanchette V. Klamroth R. Redefining prophylaxis in the modern era. Haemophilia. 2020; 27: 21-27 PubMed Google Scholar ]. For example patients with predefined ultra-high inhibitor risk (such as those with large F8 deletions) could potentially benefit from alternative modes of prophylaxis or treatment different then FVIII. Consistent with that, we performed a study of an association of MHC alleles with inhibitor (factor VIII inhibitory antibodies) development in boys with haemophilia using high-resolution HLA genotyping. There is a good biological rationale related to basic mechanism of antigen presentation for inhibitor-HLA dependence and there are number of reports on potential HLA-inhibitor associations [ [4] Bardi E. Astermark J. Genetic risk factors for inhibitors in haemophilia A. Eur. J. Haematol. 2015; 94: 7-10 Crossref PubMed Scopus (28) Google Scholar ]. Major reported HLA-inhibitor associations are summarized in Supplementary Table 1. The concordance of the studies so far is low and compelling data are lacking. This might be partly related to differences between ethnic groups, mode of treatment delivery or rFVIII brand. HLA genotyping play a significant diagnostic and/or prognostic role in several autoimmune diseases with the notable examples of coeliac disease or ankylosing spondylitis [ [5] Dendrou C.A. Petersen J. Rossjohn J. Fugger L. HLA variation and disease. Nat. Rev. Immunol. 2018; 18: 325-339 Crossref PubMed Scopus (251) Google Scholar ]. What is more, HLA variants are associated with the risk of immune-based adverse drug reactions similar to the phenotype studied here [ [6] Kutszegi N. Yang X. Gézsi A. Schermann G. Erdélyi D.J. Semsei Á. Gábor K.M. Sági J.C. Kovács G.T. Falus A. et al. HLA-DRB1*07:01-HLA-DQA1*02:01-HLA-DQB1*02:02 haplotype is associated with a high risk of asparaginase hypersensitivity in acute lymphoblastic leukemia. Haematologica. 2017; 102: 1578-1586 Crossref PubMed Scopus (24) Google Scholar ]. The associations reported so far in haemophilia are mainly limited to class II MHC alleles based on the assumption that class I alleles products are less relevant to exogenous antigen presentation and thus immune response to F8 protein [ [4] Bardi E. Astermark J. Genetic risk factors for inhibitors in haemophilia A. Eur. J. Haematol. 2015; 94: 7-10 Crossref PubMed Scopus (28) Google Scholar ]. This assumption may be questioned in view of the currently complex understating of immune response including antigen processing but also immunoregulation [ [7] Rock K.L. Reits E. Neefjes J. Present yourself! By MHC Class I and MHC Class II molecules. Trends Immunol. 2016; 37: 724-737 Abstract Full Text Full Text PDF PubMed Scopus (304) Google Scholar ]. Here we performed high-resolution next-generation sequencing based genotyping of major MHC class I and II alleles, rather than limited the study to class I region only." @default.
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• W3139562762 title "HL-A*11:01, -B*51:01, -DQB1*02:02 and -DRB1*07:01 are associated with inhibitor development in boys with severe haemophilia A receiving rFVIII prophylaxis in Poland" @default.
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• W3139562762 doi "https://doi.org/10.1016/j.thromres.2021.03.027" @default.
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