Major histocompatibility class I deficiency, due to genetic lesions in TAP1, TAP2, TAPBP, or B2M, manifests with recurrent sinopulmonary infections and granulomatous skin ulceration, and is predominately treated with antimicrobial prophylaxis and chest physiotherapy. One previous report of hematopoietic stem cell transplantation has been described in the literature, demonstrating cure of the immune defect without significant graft-versus-host disease. In this report, we expand the literature on HSCT in MHC-I deficiency with follow-up of the original patient, demonstrating maintained resolution of normal immune function and regression of the granulomatous rash 15 years post-transplant, and describe a further patient with mycobacterial disease whose transplant course was complicated by severe graft-versus-host disease.

主要组织相容性 I 类缺陷，由于TAP1、TAP2、TAPBP或B2M 中的遗传病变，表现为复发性窦肺感染和肉芽肿性皮肤溃疡，主要采用抗菌药物预防和胸部物理治疗。文献中已经描述了先前关于造血干细胞移植的一份报告，证明免疫缺陷可以治愈，而没有明显的移植物抗宿主病。在本报告中，我们扩展了有关 MHC-I 缺乏症 HSCT 的文献，并对原患者进行了随访，证明移植后 15 年正常免疫功能保持正常消退和肉芽肿性皮疹消退，并描述了另一例分枝杆菌感染患者移植过程并发严重移植物抗宿主病的疾病。