PDF(Pubmed)
Abstract：
Chronic granulomatous disease (CGD) is a rare inborn error of immunity characterized by recurrent fungal and bacterial infections due to defective nicotinamide adenine dinucleotide phosphate (NADPH) oxidase activity. This case report describes an 11-month-old female who was initially diagnosed with tubercular lymphadenitis and presented with fever and bilateral neck swelling. Despite receiving anti-tubercular treatment (ATT) and intravenous antibiotics, the patient experienced recurrent infections and abscesses, prompting further investigation. Laboratory tests revealed normal immunoglobulin levels but abnormal nitroblue tetrazolium (NBT) and dihydrorhodamine (DHR) tests, indicating CGD. Genetic analysis (clinical exome by next-generation sequencing) confirmed a novel NCF2 gene mutation associated with autosomal recessive CGD. This patient was treated with prophylactic antibiotics and antifungals and subsequently underwent successful hematopoietic stem cell transplantation (HSCT). This highlights the diagnostic challenges associated with CGD, particularly in tuberculosis-endemic regions such as India, emphasizing the importance of considering primary immunodeficiency disorders in patients with recurrent infections. Early diagnosis and appropriate treatment, including HSCT, can significantly improve patient outcomes. The patient remained infection-free on prophylactic antimicrobials for 1.5 years post-discharge, demonstrating the potential for a favorable prognosis with timely intervention and comprehensive management.
摘要：
慢性肉芽肿病（CGD）是一种罕见的先天性免疫错误，其特征是由于烟酰胺腺嘌呤二核苷酸磷酸（NADPH）氧化酶活性缺陷而引起的复发性真菌和细菌感染。该病例报告描述了一名11个月大的女性，最初被诊断为结核性淋巴结炎，并出现发烧和双侧颈部肿胀。尽管接受了抗结核治疗（ATT）和静脉注射抗生素，患者反复出现感染和脓肿,促使进一步调查。实验室检查显示免疫球蛋白水平正常，但硝基蓝四唑（NBT）和二氢罗丹明（DHR）测试异常，指示CGD。遗传分析（通过下一代测序的临床外显子组）证实了与常染色体隐性CGD相关的新型NCF2基因突变。该患者接受预防性抗生素和抗真菌药物治疗，随后成功进行了造血干细胞移植（HSCT）。这突出了与CGD相关的诊断挑战，特别是在印度等结核病流行地区，强调考虑复发性感染患者原发性免疫缺陷疾病的重要性。早期诊断和适当治疗，包括HSCT,可以显著改善患者的预后。患者在出院后1.5年内保持预防性抗菌药物无感染，通过及时干预和综合管理，证明预后良好的潜力。
