Case Presentation

A 30-year-old woman was referred with increasing shortness of breath and cough in the setting of GATA2 deficiency. She initially presented 9 years previously with recurrent episodes of pneumonia and sinusitis. Genetic testing revealed a heterozygous GATA2 mutation (c.988C>T). She has since had multiple infections that have included necrotizing fasciitis of the right thumb, recurrent pilonidal infections (which required 23 procedures), esophageal candidiasis, and human papillomavirus-positive high-grade squamous intraepithelial lesion of the cervix. Serial bone marrow biopsy specimens showed persistent hypocellularity (20% to 60%) with intermittent erythroid atypia and variable detection of trisomy 8, which were concerning for evolving myelodysplastic syndrome. One year before the current admission, she was diagnosed with disseminated Mycobacterium avium complex and was treated with rifabutin, ethambutol, and azithromycin. She was taking voriconazole, acyclovir, and trimethoprim-sulfamethoxazole prophylaxis.

中文翻译：

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一名 30 岁免疫缺陷女性，持续咳嗽和呼吸急促

案例展示

一名 30 岁女性因 GATA2 缺乏而出现呼吸急促和咳嗽加重。她最初在 9 年前因反复发作的肺炎和鼻窦炎就诊。基因检测显示杂合GATA2突变（c.988C>T）。此后，她患有多种感染，包括右手拇指坏死性筋膜炎、复发性藏毛感染（需要 23 次手术）、食道念珠菌病和人乳头瘤病毒阳性宫颈高级别鳞状上皮内病变。系列骨髓活检标本显示持续性细胞减少（20% 至 60%），伴有间歇性红系异型性和 8 三体的可变检测，这与发展中的骨髓增生异常综合征有关。在本次入院前一年，她被诊断出患有播散性鸟分枝杆菌复合体，并接受了利福布丁、乙胺丁醇和阿奇霉素治疗。她正在服用伏立康唑、阿昔洛韦和甲氧苄啶-磺胺甲恶唑预防。