原发性慢性肉芽肿病(chronic granulomatous disease,CGD)是一组罕见的原发性免疫缺陷病( primary immunodeficiency diseases,PID),为先天性吞噬细胞(包括中性粒细胞、单核细胞、巨噬细胞和嗜酸性粒细胞)功能缺陷的典型疾病,由于基因突变导致吞噬细胞呼吸爆发功能障碍,不能杀伤过氧化物酶阳性的细菌和真菌,以反复细菌、真菌...
另外,近些年的研究表明,CGD不仅仅表现为感染,由于免疫功能紊乱,部分患儿可出现自身免疫性疾病如炎症性肠病等[1~3]。 病原体进入体内,与吞噬细胞表面的受体结合,活化NADPH氧化酶,产生超氧化物质,杀伤细菌和真菌等,该过程称为“呼吸爆发”。CGD患儿编码NADPH氧化酶的基因发生突变,不能发生呼吸爆发反应,因此不能杀伤...
Chronic granulomatous disease is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactive oxygen compounds used to kill certain ingested pathogens. This leads to the formation of granulomata in many organs. CGD affects about 1 in 200,...
原发性慢性肉芽肿病(chronic granulomatous disease,CGD)是一组罕见的原发性免疫缺陷病( primary immunodeficiency diseases,PID),为先天性吞噬细胞(包括中性粒细胞、单核细胞、巨噬细胞和嗜酸性粒细胞)功能缺陷的典型疾病,由于基因突变导致吞噬细胞呼吸爆发功能障碍,不能杀伤过氧化物酶阳性的细菌和真菌,以反复细菌、真菌...
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慢性肉芽肿病 (Chronic granulomatous disease )CGD是罕见的原发性免疫缺陷病。由于编码吞噬细胞内还原型烟酰胺腺嘌呤二核苷酸磷酸(NADPH)过氧化物酶复合物各组分的基因缺陷引起。该酶复合物负责吞噬细胞的呼吸爆发。正常情况下,当病原体侵入机体时,吞噬细胞可以快速产生反应性氧自由基,和蛋白共同介导微生物的杀灭,即"...
This was suggestive of a neutrophil NADPH oxidase deficiency associated with chronic granulomatous disease (CGD). Genetic testing revealed a homozygous mutation in the NCFI gene (P47). He responded well acutely to intravenous cefazolin and metronidazole; he subsequently was treated with prophylactic ...
Chronic granulomatous disease (CGD) is a rare inherited primary immunodeficiency of phagocytic leukocytes characterized by recurrent life-threatening bacterial, fungal, and yeast infections especially of airways, lymph nodes, subcutaneous tissues, liver, and bones. ...
Chronic granulomatous disease (CGD), an inherited disorder of granulocyte function caused by failure of intracellular superoxide production, normally presents in the first years of life with severe recurrent bacterial and fungal infections. From the files of two children's hospitals we identified 11 CGD...
CHRONIC GRANULOMATOUS DISEASE (CGD): ISOLATED DEFECT OF THE NADPH-OXIDASE ACTIVITY IN NEUTROPHILSPediatric Research publishes original papers, invited reviews, and commentaries on the etiologies of diseases of children and disorders of development, extending from molecular biology to epidemiology. Use of ...