皮疹
慢性肉芽肿性疾病
造血干细胞移植
免疫学
主要组织相容性复合体
疾病
医学
免疫系统
移植
组织相容性
移植物抗宿主病
人类白细胞抗原
皮肤病科
病理
内科学
抗原
作者
Christo Tsilifis,Diana Moreira,Laura Marqués,Esmeralda Neves,Mary Slatter,Andrew R. Gennery
标识
DOI:10.1016/j.clim.2021.108801
摘要
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.
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