长期发热婴儿慢性肉芽肿病1例
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A Case of Chronic Granulomatous Disease in an Infant with Prolonged Fever
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    摘要:

    <正>慢性肉芽肿病(chronic granulomatous disease,CGD)是一种罕见的原发性免疫缺陷、单基因遗传病,首次于1959年报道,最初认为它只有一种X连锁遗传模式(XR),1968年在女性中发现它为常染色体隐性遗传(autosomal recessive,AR)形式[1]。现发现遗传方式大致分为:以蛋白gp91phox缺陷的X连锁隐性遗传和以p47Phox缺陷为主的常染色体隐性遗传,临床表现为反复出现的严重细菌或真菌感染及过度的炎症性疾病,影响患儿生长发育、生活质量,甚至威胁病儿生命[2]。

    Abstract:

    Chronic granulomatous disease (CGD) is a rare primary immunodeficiency and monogenic inherited disease, first reported in 1959. Initially believed to have only one X-linked inheritance pattern (XR), it was discovered in females in 1968 as an autosomal recessive (AR) form. It has been found that genetic patterns can be roughly divided into X-linked recessive inheritance with protein gp91phox deficiency and autosomal recessive inheritance with p47Phox deficiency as the main cause. Clinical manifestations include recurrent severe bacterial or fungal infections and excessive inflammatory diseases, which affect the growth and development, quality of life, and even threaten the lives of sick children.

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杨波;苗旭;张玉玲.长期发热婴儿慢性肉芽肿病1例[J].川北医学院学报,2026,41(3):382-384.

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  • 在线发布日期: 2026-04-26
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