Roxo-Junior P, Simão H M L
Departamento de Pediatria, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brasil.
Departamento de Biologia e Farmácia, Faculdade de Medicina de Santa Cruz, Universidade de Santa Cruz do Sul, Santa Cruz do Sul, RS, Brasil.
Braz J Med Biol Res. 2014 Nov;47(11):924-8. doi: 10.1590/1414-431X20143735. Epub 2014 Aug 29.
Chronic granulomatous disease is a primary immunodeficiency caused by mutations in the genes encoding subunits of the phagocytic NADPH oxidase system. Patients can present with severe, recurrent infections and noninfectious conditions. Among the latter, inflammatory manifestations are predominant, especially granulomas and colitis. In this article, we systematically review the possible mechanisms of hyperinflammation in this rare primary immunodeficiency condition and their correlations with clinical aspects.
慢性肉芽肿病是一种原发性免疫缺陷病，由编码吞噬性NADPH氧化酶系统亚基的基因突变引起。患者可出现严重的反复感染和非感染性病症。在后者中，炎症表现占主导，尤其是肉芽肿和结肠炎。在本文中，我们系统地综述了这种罕见的原发性免疫缺陷病中炎症反应过度的可能机制及其与临床特征的相关性。
