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Abstract：
CGD is a rare primary immunodeficiency with high mortality rates when treated conventionally, especially for the X-chromosome-linked form. HSCT is the only curative therapy for CGD; however, haploidentical transplantation in CGD is rare. Here, we report a case of X-linked CGD treated successfully by haploidentical HSCT. The patient showed a positive result with full donor chimerism, good quality of life, and the absence of recurrent infectious diseases at follow-up (68 months). Thus, haploidentical HSCT may serve as an acceptable treatment approach for patients who have CGD, but no HLA-matched related or unrelated donor.
摘要：
CGD是一种罕见的原发性免疫缺陷，常规治疗时死亡率高，尤其是X染色体连锁形式.HSCT是CGD的唯一治疗方法；然而，CGD中的单倍体相合移植很少见。这里,我们报告了一例X连锁CGD通过单倍体HSCT成功治疗。患者显示出阳性结果，完全供体嵌合状态，生活质量好,随访（68个月）时没有复发的传染病。因此，单倍体HSCT可作为CGD患者可接受的治疗方法，但没有HLA匹配的相关或无关供体。
