Liệu pháp gen cải thiện chức năng miễn dịch ở trẻ vị thành niên mắc bệnh thiếu máu miễn dịch kết hợp nặng do liên kết với nhiễm sắc thể X

Javier Chinen1, Joie Davis1, Suk See De Ravin2, Beverly N. Hay1, Amy P. Hsu1, Gilda F. Linton2, Nora Naumann2, Effie Y.H. Nomicos2, Christopher Silvin1, Jean Ulrick2, Narda L. Whiting-Theobald2, Harry L. Malech2, Jennifer M. Puck1
1Genetics and Molecular Biology Branch, National Human Genome Research Institute, and Department of Health and Human Services (DHHS), Bethesda, MD
2Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Department of Health and Human Services (DHHS), Bethesda, MD

Tóm tắt

Liệu pháp gen retrovirus có khả năng phục hồi miễn dịch cho trẻ sơ sinh mắc chứng thiếu máu miễn dịch kết hợp nặng do liên kết với nhiễm sắc thể X (XSCID) gây ra do đột biến trong gen IL2RG mã hóa chuỗi gamma chung (γc) của các thụ thể cho interleukin 2 (IL-2), −4, −7, −9, −15 và −21. Chúng tôi đã nghiên cứu độ an toàn và hiệu quả của liệu pháp gen như một phương pháp điều trị cứu cánh cho trẻ em lớn hơn mắc XSCID có sự tái tạo miễn dịch không đầy đủ mặc dù đã từng ghép tủy xương từ cha mẹ. Các đối tượng nghiên cứu nhận được tế bào gốc huyết học CD34+ tự thân được huy động ngoại vi qua retrovirus. Chức năng tế bào T được cải thiện đáng kể ở đối tượng nhỏ tuổi nhất (10 tuổi), và sự đánh dấu đa dòng retrovirus đã xảy ra ở cả 3 trẻ em.

Từ khóa

#Liệu pháp gen #thiếu máu miễn dịch kết hợp nặng do liên kết với nhiễm sắc thể X #tế bào T #retrovirus #tự thân #tế bào gốc huyết học

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