Suy giảm miễn dịch kết hợp nặng: sự sống sót được cải thiện dẫn đến phát hiện bệnh gan tiềm ẩn

Anusha Vittal1, Nehna Abdul Majeed1, Elizabeth Garabedian2, Jamie Marko3, David E. Kleiner4, Robert A. Sokolic5, Fabio Candotti5, Harry L. Malech6, Theo Heller5, Christopher Koh5
1Clinical Research Section, Liver Diseases Branch, NIDDK, NIH, Bethesda, MD, USA
2National Human Genome Research Institute, NIH, Bethesda, MD, USA
3Department of Radiology and Imaging Sciences, NIH, Bethesda, MD, USA
4Laboratory of Pathology, NCI, NIH, Bethesda, MD, USA
5Translational Hepatology Section, Liver Diseases Branch, NIDDK, NIH, Bethesda, MD, USA
6National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA

Tóm tắt

Tóm tắt Đặt vấn đề Suy giảm adenosine deaminase (ADA) là một rối loạn di truyền autosomal lặn dẫn đến suy giảm miễn dịch kết hợp nặng (SCID). Rối loạn này được đặc trưng về mặt bệnh lý sinh lý bởi sự tích lũy nội bào của các sản phẩm độc hại ảnh hưởng đến bạch cầu. Các hệ thống cơ quan khác cũng được biết đến là bị ảnh hưởng, gây ra các bất thường không liên quan đến miễn dịch. Chúng tôi đã tiến hành một nghiên cứu cắt ngang để mô tả bệnh gan trong ADA-SCID di truyền autosomal lặn.

Từ khóa


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