Ponsford Mark J, Clark James, Mock Joel, Abinun Mario, Carne Emily, El-Shanawany Tariq, Williams Paul E, Choudhury Anirban, Freeman Alexandra F, Gennery Andrew R, Jolles Stephen
Immunodeficiency Centre for Wales, University Hospital for Wales, Cardiff, United Kingdom.
Division of Infection, Inflammation, and Immunity, School of Medicine, Tenovus Institute, Cardiff University, Cardiff, United Kingdom.
Front Pediatr. 2020 Sep 10;8:575. doi: 10.3389/fped.2020.00575. eCollection 2020.
Dominant negative mutations in the transcription-factor underlie the rare primary immunodeficiency Job's syndrome. Allogeneic Hematopoietic Stem Cell Transplantation (HSCT) has shown promise in correction of the underlying immunological defect, with one report suggesting HSCT can prevent development of wider connective tissue complications. Here, we report the case of a 26 year old male who developed an acute ST-elevation myocardial infarction due to coronary artery ectasia and thrombosis, occurring despite pediatric allogeneic HSCT for STAT3-HIES and a predicted 10-year conventional cardiovascular risk of 0.1%. Vasculopathy associated with STAT3-HIES may persist or arise following HSCT and can precipitate life-threatening complications. This has implications for counseling and vascular surveillance, and highlights the need for further studies to determine the risk, pathogenesis, and optimal management of the vasculopathy associated with STAT3-HIES.
转录因子中的显性负性突变是罕见的原发性免疫缺陷病乔布综合征的病因。异基因造血干细胞移植（HSCT）已显示出纠正潜在免疫缺陷的前景，有一份报告表明HSCT可预防更广泛的结缔组织并发症的发生。在此，我们报告一例26岁男性病例，该患者因冠状动脉扩张和血栓形成而发生急性ST段抬高型心肌梗死，尽管其儿时因STAT3-HIES接受了异基因HSCT，且预测的传统心血管10年风险为0.1%。与STAT3-HIES相关的血管病变可能在HSCT后持续存在或出现，并可引发危及生命的并发症。这对咨询和血管监测具有重要意义，并凸显了进一步研究以确定与STAT3-HIES相关血管病变的风险、发病机制和最佳管理方法的必要性。
