Background: Chronic granulomatous disease (CGD) is a rare genetic disorder characterized by failure of phagocytic leukocytes to destroy certain microbes. We present a study on CGD patients enrolled at a single medical center concerning the infectious and noninfectious complications and genetic properties of the disease. Methods: Icotinamide adenine dinucleotide phosphate oxidase activity and the expression of flavocytochrome b₅₅₈ were measured by flow cytometry, and clinical outcomes of the patients were listed in relation to the genetic results. Results: The clinical and genetic findings of 32 pediatric cases with CGD from 23 families were enrolled. Pneumonia and anemia were the most common infectious and noninfectious symptoms. Genetic analysis showed that 10 families (43.5%) carried CYBB variants and 13 families (56.5%) have autosomal recessive (AR) CGD, in which 6 families (26%) carried NCF1 variants, 4 (17.4%) carried CYBA variants, and 3 (13%) carried NCF2 variants. The median age of clinical onset was 3.3 and 48 months for patients with X-linked CGD (X-CGD) and AR-CGD, respectively. The onset of symptoms before age 1 year was 94% in X-CGD, 28.5% in AR-CGD, and 12.5% in patients with oxidase residual activity. Moreover, a de novo germline mutation at c.1415delG in CYBB (OMIM#300481) and a novel c.251_263del13bp in CYBA (OMIM#608508) were also investigated. Conclusions: Ihydrorhodamine-1,2,3 assay could not detect carrier mother in de novo case with CYBB variant. Most X-CGD patients have the onset of symptoms before age 1 year. Additionally, residual oxidase activity in AR-CGD causes a delay in onset, diagnosis, and prophylaxis. The protective role of residual activity is limited while the infection is ongoing and becoming serious.
Int Arch Allergy Immunol

中文翻译：

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32 名慢性肉芽肿病患者的遗传特征、感染性和非感染性表现。

背景：慢性肉芽肿病（CGD）是一种罕见的遗传性疾病，其特征是吞噬白细胞无法破坏某些微生物。我们提出了一项关于在单一医疗中心登记的 CGD 患者的研究，该研究涉及该疾病的传染性和非传染性并发​​症以及遗传特性。方法：采用流式细胞术检测烟酰胺腺嘌呤二核苷酸磷酸氧化酶活性和黄素细胞色素b ₅₅₈的表达，并根据遗传结果列出患者的临床结局。结果：纳入了来自 23 个家庭的 32 例 CGD 儿科病例的临床和遗传发现。肺炎和贫血是最常见的感染性和非感染性症状。遗传分析显示，10个家族（43.5%）携带CYBB变异，13个家族（56.5 %）携带常染色体隐性遗传（AR）CGD，其中6个家族（26%）携带NCF1变异，4个（17.4%）携带CYBA变异，以及3 (13%) 携带NCF2变体。X-linked CGD (X-CGD) 和 AR-CGD 患者的临床发病中位年龄分别为 3.3 和 48 个月。X-CGD 患者 1 岁前出现症状的比例为 94%，AR-CGD 患者为 28.5%，氧化酶残留活性患者为 12.5%。此外，在 c.1415delG 处的从头种系突变CYBB（OMIM＃300481），并在一个新的c.251_263del13bp CYBA（OMIM＃608508）也进行了调查。结论： Ihydrorhodamine-1,2,3 检测无法检测到携带CYBB变异的从头病例中的携带者母亲。大多数 X-CGD 患者在 1 岁之前出现症状。此外，AR-CGD 中残留的氧化酶活性会导致发病、诊断和预防的延迟。当感染持续并变得严重时，残留活性的保护作用是有限的。
Int Arch 过敏免疫