Department of Neurology, Postgraduate Institute of Medical Education and Research, (PGIMER), Chandigarh 160012, India.
Department of Neurology, Postgraduate Institute of Medical Education and Research, (PGIMER), Chandigarh 160012, India.
J Neuroimmunol. 2020 Jun 15;343:577229. doi: 10.1016/j.jneuroim.2020.577229. Epub 2020 Mar 28.
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.
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。X 连锁 CGD 的携带者自身免疫性疾病的风险增加，特别是狼疮样疾病。我们描述了一例 37 岁的 X 连锁 CGD 女性携带者，其临床表现和血清学检查符合系统性红斑狼疮（SLE）的明确诊断，具有罕见的免疫介导的神经表现，包括继发性中枢神经系统（CNS）血管炎和长节段横贯性脊髓炎（LETM），对免疫调节有反应。这些神经表现以前在 CGD 的携带者中没有描述过。我们建议早期诊断这些免疫机制，特别是在 X 连锁 CGD 的携带者中，并进行适当的免疫调节，以提高预期寿命并改善神经预后。
