Immune System-Related Genetic Risk Factors for Inhibitory Antibody Development in Patients With Hemophilia: Reviewing an Old Problem From a New Perspective—A Narrative Review

IF 2.1 Q2 MEDICINE, GENERAL & INTERNAL

Health Science Reports Pub Date : 2025-10-06 DOI:10.1002/hsr2.71331

Fatemeh Zeylabi, Mojtaba Aghaei, Najmaldin Saki

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Abstract

Background and Aims

Hemophilia A and B are two of the most common bleeding disorders. Genetic risk factors are associated with the development of autoantibodies released in hemophilia patients against alternative factors and are the most important problems associated with the care of these patients.

Objective

In this study, we reviewed genetic risk factors related to the immune system in patients with hemophilia A and B who developed inhibitory antibodies against factors 8 or 9.

Methods

This study is based on the PubMed database and Google Scholar search engine information (2016–2025) in English using the terms “inhibitors”, “inhibitory antibodies”, “immune system”, and “hemophilia”.

Results

Studies have shown that multiple genetic factors (CTLA-4, PTPN22, and cytokine polymorphisms) increase the risk of producing an inhibitor against alternative factors (8 and 9) in patients with severe hemophilia.

Conclusions

The presence of inhibitory antibodies in patients with severe hemophilia may be associated with immune system-related genetic risk factors, and several studies have shown that in most cases, immune system-related polymorphisms (rs2476601 PTPN22, rs2069812 IL5, and rs1800629 TNF-α) produce autoimmune antibodies or exacerbate them.

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血友病患者抑制抗体发生的免疫系统相关遗传危险因素：从新角度回顾一个老问题-叙述性回顾

背景和目的：血友病A和B是两种最常见的出血性疾病。遗传风险因素与血友病患者释放的自身抗体的发展有关，并且是与这些患者的护理相关的最重要问题。目的：在本研究中，我们回顾了血友病A和B患者对因子8或9产生抑制性抗体与免疫系统相关的遗传危险因素。方法：本研究以PubMed数据库和谷歌Scholar搜索引擎信息（2016-2025）为基础，使用“抑制剂”、“抑制性抗体”、“免疫系统”和“血友病”等术语进行英文检索。结果：研究表明，多重遗传因素（CTLA-4、PTPN22和细胞因子多态性）增加了严重血友病患者产生替代因子（8和9）抑制剂的风险。结论：严重血友病患者中存在抑制性抗体可能与免疫系统相关的遗传危险因素有关，多项研究表明，在大多数情况下，免疫系统相关多态性（rs2476601 PTPN22、rs2069812 IL5和rs1800629 TNF-α）可产生自身免疫抗体或使其恶化。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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