Unité Transversale de la Drépanocytose, Centre de Référence Antilles-Guyane pour la Drépanocytose, les Thalassémies et les Maladies Constitutives du Globule Rouge et de l'Erythropoïèse, CHU Guadeloupe, 97110 Pointe à Pitre, France.
Centre de Référence pour la Drépanocytose, les Thalassémies et les Maladies Constitutives du Globule Rouge et de l'Erythropoïèse, Assistance Publique des Hôpitaux de Marseille, 13005 Marseille, France.
Int J Mol Sci. 2023 Sep 2;24(17):13591. doi: 10.3390/ijms241713591.
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 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 and genetic polymorphisms located in their regulatory region and associated with their protein expression level.
红细胞（RBC）输血仍然是治疗镰状细胞病（SCD）急性和慢性并发症的关键组成部分。患者同种免疫是输血的主要限制因素，它会加重贫血，并导致延迟溶血性输血反应或输血僵局。尽管已经确定了免疫的生物学危险因素，但患者同种免疫仍然难以预测。我们旨在描述遗传同种免疫因素，以优化与扩展抗原匹配相容的血液制品的管理，确保不稳定血液制品的自给自足。考虑到其他临床环境中的同种免疫，如妊娠和移植，许多研究表明 HLA Ib 分子（HLA-G、-E 和 -F）参与了耐受机制；这些分子是免疫效应细胞受体的配体（LILRB1、LILRB2 和 KIR3DS1）。这些配体和受体的遗传多态性与它们的表达水平及其对炎症和免疫反应调节的影响有关。我们的假设是，基因和受体的多态性与 SCD 患者的同种免疫易感性有关。根据这些遗传多态性和输血史分析了 37 名成年 SCD 患者的同种免疫情况。我们的研究结果表明，SCD 患者的同种免疫与位于其调控区的 基因和 多态性有关，并且与它们的蛋白表达水平有关。
