Department of Immunology-Histocompatibility, Specialized Center & Referral Center for Primary Immunodeficiencies, Paediatric Immunology, 'Aghia Sophia' Children's Hospital, Athens, Greece.
Curr Opin Hematol. 2018 Jan;25(1):7-12. doi: 10.1097/MOH.0000000000000396.
Chronic granulomatous disease (CGD) is a primary immunodeficiency, with a defect of phagocytes in killing specific pathogens. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory response. Since its first description as fatal disease about 60 years ago, a significant improvement in outcome has been achieved in the last 20 years. The purpose of this review is to framework recent advances in CGD immunopathogenesis, management of disease manifestation and cure of CGD patients.
For years, CGD is a known cause of life-threatening infections and excessive inflammation. The cause and the management of inflammatory reactions, however, have not been clarified, and the range of clinical presentation is growing with corresponding novel therapeutic interventions. Recent work focuses on the best outcome of hematopoietic stem cell transplantation (HSCT) and gene therapy for the cure of CGD patients, more specifically, those with X-linked and p47 mutations.
The genetics and phenotype of CGD is well characterized; however, the underlying mechanisms, the treatment of its inflammatory manifestations and the cure of CGD is under further investigation.
慢性肉芽肿病（CGD）是一种原发性免疫缺陷病，吞噬细胞在杀伤特定病原体方面存在缺陷。CGD 的特征是严重的复发性细菌和真菌感染以及炎症反应失调。自大约 60 年前首次描述为致命性疾病以来，在过去 20 年中，该病的预后得到了显著改善。本文旨在阐述 CGD 免疫发病机制、疾病表现的管理和 CGD 患者的治疗方面的最新进展。
多年来，CGD 是危及生命的感染和过度炎症的已知原因。然而，炎症反应的原因和管理仍未得到阐明，随着新型治疗干预措施的出现，其临床表现范围也在不断扩大。最近的研究集中在造血干细胞移植（HSCT）和基因治疗对 CGD 患者的最佳疗效上，特别是针对 X 连锁和 p47 突变的患者。
CGD 的遗传学和表型特征已经得到很好的描述；然而，其炎症表现的潜在机制、治疗方法和 CGD 的治愈仍在进一步研究中。
