Division of Infectious Diseases, Ann & Robert H Lurie Children's Hospital of Chicago, 225 E Chicago Ave., Box 20, Chicago, IL, 60611, USA.
Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, USA.
J Clin Immunol. 2022 Oct;42(7):1411-1419. doi: 10.1007/s10875-022-01294-6. Epub 2022 Jun 13.
Chronic granulomatous disease (CGD) is an uncommon, inborn error of immunity. We updated our large, single-center US experience with CGD and describe some newly recognized features.
We retrospectively reviewed 26 patients seen from November 2013 to December 2019. Serious infections required intravenous antibiotics or hospitalization.
There were 21 males and 5 females. The most frequent infectious agents at presentation were aspergillus (4), serratia (4), burkholderia (2), Staphylococcus aureus (2), and klebsiella (2). The most common serious infections at presentation were pneumonia (6), lymphadenitis (6), and skin abscess (3). Our serious infection rate was 0.2 per patient-year from December 2013 through November 2019, down from 0.62 per patient-year from the previous study period (March 1985-November 2013). In the last 6 years, four patients were evaluated for human stem cell transplantation, two were successfully transplanted, and we had no deaths. Several patients had unusual infections or autoimmune manifestations of disease, such as pneumocystis pneumonia, basidiomycete/phellinus fungal pneumonia, and retinitis pigmentosa. We included one carrier female with unfavorable Lyonization in our cohort.
We update of a large US single-center experience with CGD and describe some recently identified features of the illness.
慢性肉芽肿病（CGD）是一种罕见的先天性免疫缺陷病。我们更新了我们在美国的大型单中心 CGD 经验，并描述了一些新发现的特征。
我们回顾性地分析了 2013 年 11 月至 2019 年 12 月期间就诊的 26 例患者。需要静脉使用抗生素或住院治疗的严重感染。
男性 21 例，女性 5 例。就诊时最常见的感染病原体是曲霉菌（4 例）、粘质沙雷菌（4 例）、伯克霍尔德菌（2 例）、金黄色葡萄球菌（2 例）和肺炎克雷伯菌（2 例）。就诊时最常见的严重感染是肺炎（6 例）、淋巴结炎（6 例）和皮肤脓肿（3 例）。我们的严重感染率从 2013 年 12 月至 2019 年 11 月为 0.2 例/患者年，低于前一个研究期间（1985 年 3 月至 2013 年 11 月）的 0.62 例/患者年。在过去的 6 年中，有 4 例患者接受了人类干细胞移植评估，其中 2 例成功移植，我们没有死亡病例。一些患者有不常见的感染或疾病的自身免疫表现，如卡氏肺孢子虫肺炎、担子菌/木层孔菌真菌肺炎和视网膜色素变性。我们的队列中包括一名具有不利莱昂化的女性携带者。
我们更新了美国一个大型单中心 CGD 经验，并描述了该疾病的一些新发现的特征。
