Immunology, Asthma and Allergy Research Institute, Children's Medical Center, Tehran University of Medical Sciences, No: 62, Dr. Gharib Street, Keshavarz Blvd, Tehran, 14194, IR, Iran.
J Clin Immunol. 2011 Oct;31(5):792-801. doi: 10.1007/s10875-011-9567-x. Epub 2011 Jul 26.
Chronic granulomatous disease (CGD) is a rare immunodeficiency due to a genetic defect in one of the NADPH-oxidase components. We studied CGD inheritance forms (autosomal recessive (AR) or X-linked (XL)) and AR-CGD subtypes in Iran.
Clinical and functional investigations were conducted in 93 Iranian CGD patients from 75 families.
Most of the patients were AR-CGD (87.1%). This was related to consanguineous marriages (p = 0.001). The age of onset of symptoms and diagnosis were lower in XL-CGD compared with AR-CGD (p < 0.0001 for both). Among AR-CGD patients, p47phox defect was the predominant subtype (55.5%). The most common clinical features in patients were lymphadenopathy (65.6%) and pulmonary involvement (57%). XL-CGD patients were affected more frequently with severe infectious manifestations.
Although XL-CGD is the most common type of the disease worldwide, only 12 patients (12.9%) were XL-CGD in our study. The relatively high frequency of AR-CGD is probable due to widely common consanguineous marriages in Iran.
慢性肉芽肿病（CGD）是一种罕见的免疫缺陷病，由于 NADPH-氧化酶成分之一的遗传缺陷所致。我们在伊朗研究了 CGD 的遗传形式（常染色体隐性（AR）或 X 连锁（XL））和 AR-CGD 亚型。
对来自 75 个家庭的 93 名伊朗 CGD 患者进行了临床和功能研究。
大多数患者为 AR-CGD（87.1%）。这与近亲结婚有关（p = 0.001）。XL-CGD 患者的症状和诊断年龄较 AR-CGD 患者小（p < 0.0001）。在 AR-CGD 患者中，p47phox 缺陷是主要亚型（55.5%）。患者最常见的临床特征是淋巴结病（65.6%）和肺部受累（57%）。XL-CGD 患者更常出现严重的感染表现。
尽管 XL-CGD 是世界范围内最常见的疾病类型，但在我们的研究中只有 12 名患者（12.9%）为 XL-CGD。AR-CGD 频率较高可能是由于伊朗广泛存在的近亲结婚。
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