Chronic granulomatous disease (CGD) is an uncommon genetic immunodeficiency disorder affecting neutrophil function, characterized by recurrent bacterial and fungal infections. X-linked carriers of CGD have an increased risk of autoimmune disorders, in particular lupus like disorders. We describe the case of a 37 years old female carrier of X-linked CGD, who presented with clinical features and serology consistent with a definite diagnosis of Systemic lupus erythematosus (SLE), with rare immune mediated neurological manifestations including secondary central nervous system (CNS) vasculitis and Longitudinally extensive transverse myelitis (LETM), responsive to immunomodulation. These neurological manifestations have not been described previously in carriers of CGD. We recommend early diagnosis of these immune mechanisms, especially in X-linked carriers of CGD, and appropriate immunomodulation in order to improve life expectancy and improve neurological outcome.

中文翻译：

---

慢性肉芽肿病携带者具有自身免疫性神经系统表现的系统性红斑狼疮——一种罕见的表现

慢性肉芽肿病 (CGD) 是一种罕见的遗传性免疫缺陷病，影响中性粒细胞功能，其特征是反复发生细菌和真菌感染。CGD 的 X 连锁携带者患自身免疫性疾病的风险增加，尤其是狼疮样疾病。我们描述了一个 37 岁女性 X 连锁 CGD 携带者的病例，她的临床特征和血清学与系统性红斑狼疮 (SLE) 的明确诊断一致，具有罕见的免疫介导的神经系统表现，包括继发性中枢神经系统 (CNS) ) 血管炎和纵向广泛性横贯性脊髓炎 (LETM)，对免疫调节有反应。这些神经系统表现以前没有在 CGD 携带者中描述过。我们建议对这些免疫机制进行早期诊断，