Division of Pediatric Allergy, Immunology, BMT, Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA, United States.
Department of Pediatrics, Johns Hopkins All Children's Hospital, University of South Florida, St. Petersburg, FL, United States.
Front Immunol. 2020 Feb 21;11:239. doi: 10.3389/fimmu.2020.00239. eCollection 2020.
Primary Immune Regulatory Disorders (PIRD) are an expanding group of diseases caused by gene defects in several different immune pathways, such as regulatory T cell function. Patients with PIRD develop clinical manifestations associated with diminished and exaggerated immune responses. Management of these patients is complicated; oftentimes immunosuppressive therapies are insufficient, and patients may require hematopoietic cell transplant (HCT) for treatment. Analysis of HCT data in PIRD patients have previously focused on a single gene defect. This study surveyed transplanted patients with a phenotypic clinical picture consistent with PIRD treated in 33 Primary Immune Deficiency Treatment Consortium centers and European centers. Our data showed that PIRD patients often had immunodeficient and autoimmune features affecting multiple organ systems. Transplantation resulted in resolution of disease manifestations in more than half of the patients with an overall 5-years survival of 67%. This study, the first to encompass disorders across the PIRD spectrum, highlights the need for further research in PIRD management.
原发性免疫调节紊乱（PIRD）是一组不断扩展的疾病，由多个不同免疫途径中的基因缺陷引起，如调节性 T 细胞功能。PIRD 患者会出现与免疫反应减弱和过度相关的临床表现。这些患者的管理很复杂；通常情况下，免疫抑制疗法效果不足，患者可能需要造血细胞移植（HCT）进行治疗。以前，对 PIRD 患者 HCT 数据的分析集中在单个基因缺陷上。本研究调查了 33 个原发性免疫缺陷治疗联盟中心和欧洲中心治疗的、具有符合 PIRD 的表型临床特征的移植患者。我们的数据表明，PIRD 患者通常具有免疫缺陷和自身免疫特征，影响多个器官系统。移植使超过一半的患者的疾病表现得到缓解，总体 5 年生存率为 67%。这项涵盖 PIRD 谱中各种疾病的研究强调了 PIRD 管理方面进一步研究的必要性。
