Gavrilova Tatyana, Zelig Ari, Lee Diana H
Division of Allergy and Immunology, Montefiore Medical Center, Albert Einstein College of Medicine, 1525 Blondell Avenue, Bronx, NY 10461, USA.
Department of Dermatology, Montefiore Medical Center, Albert Einstein College of Medicine, 3415 Bainbridge Avenue, Bronx, NY 10467, USA.
Case Rep Med. 2020 Feb 6;2020:2546190. doi: 10.1155/2020/2546190. eCollection 2020.
Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder marked by abnormal phagocytic function. CGD affects primarily neutrophils and manifests as an early predisposition to severe life-threatening infections. Additionally, patients with CGD are predisposed to unique autoimmune manifestations. While generally spared from infectious complications, heterozygous carriers of the abnormal genes implicated in CGD pathogenesis can still present with autoimmune disorders. A mutation in the CYBB gene is the only X-linked variant of this disease. This article describes a family with the CYBB mutation, its heterogenous presentation, and reviews the literature discussing disease management.
慢性肉芽肿病（CGD）是一种以吞噬功能异常为特征的原发性免疫缺陷病。CGD主要影响中性粒细胞，并表现为早期易患严重的危及生命的感染。此外，CGD患者易出现独特的自身免疫表现。虽然通常不会出现感染并发症，但参与CGD发病机制的异常基因的杂合子携带者仍可能出现自身免疫性疾病。CYBB基因突变是该疾病唯一的X连锁变异型。本文描述了一个具有CYBB突变的家族及其异质性表现，并综述了有关疾病管理的文献。
