PURPOSE Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by an inability of phagocytes to produce reactive oxygen species, impairing their killing of various bacteria and fungi. We summarize here the 93 cases of CGD diagnosed in Mexico from 2011 to 2019. METHODS Thirteen Mexican hospitals participated in this study. We describe the genetic, immunological, and clinical features of the 93 CGD patients from 78 unrelated kindreds. RESULTS Eighty-two of the patients (88%) were male. All patients developed bacterial infections and 30% suffered from some kind of fungal infection. Fifty-four BCG-vaccinated patients (58%) presented infectious complications of BCG vaccine. Tuberculosis occurred in 29%. Granulomas were found in 56% of the patients. Autoimmune and inflammatory diseases were present in 15% of patients. A biological diagnosis of CGD was made in 89/93 patients, on the basis of NBT assay (n = 6), DHR (n = 27), and NBT plus DHR (n = 56). The deficiency was complete in all patients. The median age of biological diagnosis was 17 months (range, 0-186 months). A genetic diagnosis was made in 83/93 patients (when material was available), corresponding to CYBB (n = 64), NCF1 (n = 7), NCF2 (n = 7), and CYBA (n = 5) mutations. CONCLUSIONS The clinical manifestations in these Mexican CGD patients were similar to those in patients elsewhere. This cohort is the largest in Latin America. Mycobacterial infections are an important cause of morbidity in Mexico, as in other countries in which tuberculosis is endemic and infants are vaccinated with BCG. X-linked CGD accounted for most of the cases in Mexico, as in other Latin American countries. However, a significant number of CYBA and NCF2 mutations were identified, expanding the spectrum of known causal mutations.

中文翻译：

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墨西哥第一批慢性肉芽肿病患者的遗传、免疫学和临床特征。

目的 慢性肉芽肿病 (CGD) 是一种原发性免疫缺陷，其特点是吞噬细胞无法产生活性氧，从而削弱其对各种细菌和真菌的杀伤能力。我们在这里总结了 2011 年至 2019 年在墨西哥诊断出的 93 例 CGD 病例。方法 13 家墨西哥医院参与了这项研究。我们描述了来自 78 个无关亲属的 93 名 CGD 患者的遗传、免疫学和临床特征。结果 82 名患者 (88%) 为男性。所有患者都出现了细菌感染，30% 的患者患有某种真菌感染。54 名接种 BCG 的患者 (58%) 出现了 BCG 疫苗的感染性并发症。结核病发生率为 29%。56% 的患者发现肉芽肿。15% 的患者存在自身免疫性疾病和炎症性疾病。根据 NBT 检测 (n = 6)、DHR (n = 27) 和 NBT 加 DHR (n = 56)，对 89/93 名患者进行了 CGD 的生物学诊断。所有患者均完全缺乏。生物学诊断的中位年龄为 17 个月（范围 0-186 个月）。83/93 名患者（当材料可用时）进行了基因诊断，对应于 CYBB (n = 64)、NCF1 (n = 7)、NCF2 (n = 7) 和 CYBA (n = 5) 突变。结论 这些墨西哥 CGD 患者的临床表现与其他地方的患者相似。这个群体是拉丁美洲最大的群体。分枝杆菌感染是墨西哥发病的一个重要原因，与其他结核病流行且婴儿接种卡介苗的国家一样。与其他拉丁美洲国家一样，与 X 相关的 CGD 占墨西哥的大部分病例。然而，