From the Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia Pennsylvania; and.
Cell Therapy and Transplant Section, Division of Oncology, Children's Hospital of Philadelphia, Philadelphia Pennsylvania.
Allergy Asthma Proc. 2024 Sep 1;45(5):371-383. doi: 10.2500/aap.2024.45.240069.
Primary immunodeficiencies, also commonly called inborn errors of immunity (IEI), are commonly due to developmental or functional defects in peripheral blood cells derived from hematopoietic stem cells. In light of this, for the past 50 years, hematopoietic stem cell transplantation (HSCT) has been used as a definitive therapy for IEI. The fields of both clinical immunology and transplantation medicine have had significant advances. This, in turn, has allowed for both an increasing ability to determine a monogenic etiology for many IEIs and an increasing ability to successfully treat these patients with HSCT. Therefore, it has become more common for the practicing allergist/immunologist to diagnose and manage a broad range of patients with IEI before and after HSCT. This review aims to provide practical guidance for the clinical allergist/immunologist on the basics of HSCT and known outcomes in selected forms of IEI, the importance of pre-HSCT supportive care, and the critical importance of and guidance for life-long immunologic and medical monitoring of these patients.
原发性免疫缺陷病，也常被称为先天性免疫缺陷（IEI），通常是由于造血干细胞来源的外周血细胞发育或功能缺陷引起的。有鉴于此，在过去的 50 年中，造血干细胞移植（HSCT）已被用作 IEI 的确定性治疗方法。临床免疫学和移植医学领域都取得了重大进展。这反过来又使得确定许多 IEI 的单基因病因的能力不断提高，并且成功地用 HSCT 治疗这些患者的能力也不断提高。因此，对于从事过敏/免疫工作的医生来说，在 HSCT 之前和之后诊断和管理广泛的 IEI 患者变得越来越常见。这篇综述旨在为临床过敏/免疫医生提供有关 HSCT 的基础知识以及特定类型 IEI 的已知结果、HSCT 前支持性护理的重要性以及对这些患者进行终身免疫和医学监测的重要性和指导。
