Kline Ahnika, Parta Mark, Cuellar-Rodriguez Jennifer, Gea-Banacloche Juan, Kelly Corin, Pittaluga Stefania, Zerbe Christa S, Holland Steven M, Malech Harry L, Kang Elizabeth M
Department of Laboratory Medicine/National Institutes of Health, San Diego, CA, USA.
Clinical Research Directorate, Frederick National Laboratory for Cancer Research, San Diego, CA, USA.
Bone Marrow Transplant. 2025 Feb;60(2):191-200. doi: 10.1038/s41409-024-02389-x. Epub 2024 Nov 4.
Chronic granulomatous disease (CGD) is a disorder of immunity characterized by phagocyte dysfunction. Mold infections in patients with CGD are often severe and disseminated. We present patient characteristics, microbiological data, and outcomes for 26 patients with CGD who received hematopoietic cell transplantation (HCT) or gene therapy-modified cells (GT) between 2008 and 2019, with proven fungal infection either before or during their transplant. All patients engrafted, and all but one GT recipient had neutrophil recovery and evidence of functional correction. Eighteen patients (69%) are currently alive and 19 patients (73% of total, 90% of patients with repeat imaging performed) had evidence of radiographic improvement. With 3 exceptions, deaths were not principally related to the fungal infection and duration of antecedent infection did not correlate with death. Aspergillus species accounted for the majority of disease (50%), followed by Phellinus species (18%). Osteomyelitis and disseminated disease were common, as only 11 patients (42%) had disease restricted to pneumonia. Triazole therapy was used in all 26 patients, with combination therapy used in 25 (96%). HCT or gene therapy, with appropriate antifungal therapy, are viable therapies for refractory fungal infections in patients with CGD.
慢性肉芽肿病（CGD）是一种以吞噬细胞功能障碍为特征的免疫紊乱疾病。CGD患者的霉菌感染往往严重且呈播散性。我们呈现了2008年至2019年间接受造血细胞移植（HCT）或基因治疗修饰细胞（GT）的26例CGD患者的患者特征、微生物学数据及转归情况，这些患者在移植前或移植期间已证实有真菌感染。所有患者均实现植入，除1例GT接受者外，所有患者中性粒细胞均恢复且有功能纠正的证据。18例患者（69%）目前存活，19例患者（占总数的73%，在进行重复影像学检查的患者中占90%）有影像学改善的证据。除3例例外，死亡主要与真菌感染无关，既往感染持续时间与死亡无相关性。曲霉菌属占疾病的大多数（50%），其次是桑黄菌属（18%）。骨髓炎和播散性疾病很常见，只有11例患者（42%）疾病局限于肺炎。所有26例患者均使用了三唑类治疗，25例（96%）使用了联合治疗。HCT或基因治疗联合适当的抗真菌治疗是CGD患者难治性真菌感染的可行治疗方法。
