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Bernit, Emmanuelle; Jean, Estelle; Marlot, Bastien; Laget, Laurine; Izard, Caroline; Dettori, Isabelle; Beley, Sophie; Gautier, Isabelle; Agouti, Imane; Frassati, Coralie; Pedini, Pascal; Picard, Christophe; Paganini, Julien; Chiaroni, Jacques; Di Cristofaro, Julie

HLA-F and LILRB1 Genetic Polymorphisms Associated with Alloimmunisation in Sickle Cell Disease

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  • Media type: E-Article
  • Title: HLA-F and LILRB1 Genetic Polymorphisms Associated with Alloimmunisation in Sickle Cell Disease
  • Contributor: Bernit, Emmanuelle; Jean, Estelle; Marlot, Bastien; Laget, Laurine; Izard, Caroline; Dettori, Isabelle; Beley, Sophie; Gautier, Isabelle; Agouti, Imane; Frassati, Coralie; Pedini, Pascal; Picard, Christophe; Paganini, Julien; Chiaroni, Jacques; Di Cristofaro, Julie
  • Published: MDPI AG, 2023
  • Published in: International Journal of Molecular Sciences, 24 (2023) 17, Seite 13591
  • Language: English
  • DOI: 10.3390/ijms241713591
  • ISSN: 1422-0067
  • Keywords: Inorganic Chemistry ; Organic Chemistry ; Physical and Theoretical Chemistry ; Computer Science Applications ; Spectroscopy ; Molecular Biology ; General Medicine ; Catalysis
  • Origination:
  • Footnote:
  • Description: Red blood cell (RBC) transfusion remains a critical component in caring for the acute and chronic complications of sickle cell disease (SCD). Patient alloimmunisation is the main limitation of transfusion, which can worsen anaemia and lead to delayed haemolytic transfusion reaction or transfusion deadlock. Although biological risk factors have been identified for immunisation, patient alloimmunisation remains difficult to predict. We aimed to characterise genetic alloimmunisation factors to optimise the management of blood products compatible with extended antigen matching to ensure the self-sufficiency of labile blood products. Considering alloimmunisation in other clinical settings, like pregnancy and transplantation, many studies have shown that HLA Ib molecules (HLA-G, -E, and -F) are involved in tolerance mechanism; these molecules are ligands of immune effector cell receptors (LILRB1, LILRB2, and KIR3DS1). Genetic polymorphisms of these ligands and receptors have been linked to their expression levels and their influence on inflammatory and immune response modulation. Our hypothesis was that polymorphisms of HLA Ib genes and of their receptors are associated with alloimmunisation susceptibility in SCD patients. The alloimmunisation profile of thirty-seven adult SCD patients was analysed according to these genetic polymorphisms and transfusion history. Our results suggest that the alloimmunisation of SCD patients is linked to both HLA-F and LILRB1 genetic polymorphisms located in their regulatory region and associated with their protein expression level.
  • Access State: Open Access