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.

原发性免疫调节疾病（PIRD）是由多种不同免疫途径（例如调节性T细胞功能）中的基因缺陷引起的疾病不断扩大的群体。PIRD患者的临床表现与免疫反应减弱和夸大有关。这些患者的治疗很复杂；通常，免疫抑制疗法不足，患者可能需要造血细胞移植（HCT）进行治疗。PIRD患者的HCT数据分析以前集中在单个基因缺陷上。这项研究调查了在33个原发性免疫缺陷治疗联合会中心和欧洲中心治疗的表型临床症状与PIRD一致的移植患者。我们的数据表明，PIRD患者通常具有影响多个器官系统的免疫缺陷和自身免疫特征。移植导致一半以上患者的疾病表现得到缓解，总体5年生存率为67％。这项研究首次涵盖了整个PIRD谱系的疾病，突显了对PIRD管理进行进一步研究的必要性。