Modern era advancements in medical care, with improved treatment of infections, can result in delayed diagnosis of congenital immunodeficiencies. In this study we present a retrospective cohort of 16 patients diagnosed with Chronic Granulomatous Disease (CGD) at adulthood. Some of the patients had a milder clinical phenotype, but others had a classic phenotype with severe infectious and inflammatory complications reflecting a profoundly impaired neutrophil function. It is therefore of great importance to investigate the individual journey of each patient through different misdiagnoses and the threads which led to the correct diagnosis. Currently the recommended definitive treatment for CGD is hematopoietic stem cell transplantation (HSCT). Although survival of our patients to adulthood might argue against the need for early HSCT during infancy, we claim that the opposite is correct, as most of them grew to be severely ill and diagnosed at a stage when HSCT is debatable with potentially an unfavorable outcome. This cohort stresses the need to increase awareness of this severe congenital immunodeficiency among clinicians of different specialties who might be treating undiagnosed adult patients with CGD.

中文翻译：

---

慢性肉芽肿病的晚期诊断。

现代医疗保健的进步以及感染治疗的改进可能导致先天性免疫缺陷的诊断延迟。在这项研究中，我们提出了一个由 16 名成年时诊断为慢性肉芽肿病 (CGD) 的患者组成的回顾性队列。一些患者具有较轻的临床表型，但其他患者具有典型的表型，伴有严重的感染和炎症并发症，反映中性粒细胞功能严重受损。因此，通过不同的误诊和导致正确诊断的线索来调查每个患者的个人旅程非常重要。目前推荐的 CGD 根治性治疗是造血干细胞移植 (HSCT)。尽管我们的患者存活到成年可能会反对在婴儿期进行早期 HSCT，我们声称相反的是正确的，因为他们中的大多数人在 HSCT 有争议的阶段发展为重病并被诊断出可能产生不利的结果。该队列强调需要提高不同专业的临床医生对这种严重的先天性免疫缺陷的认识，他们可能正在治疗未确诊的成年 CGD 患者。