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患者种系 PIK3CD 突变的骨髓中异常 B 细胞成熟。

Abnormal B-cell maturation in the bone marrow of patients with germline mutations in PIK3CD.

机构信息

Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Md.

Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Ill; Division of Pathology and Laboratory Medicine, Phoenix Children's Hospital, Phoenix, Ariz.

出版信息

J Allergy Clin Immunol. 2017 Mar;139(3):1032-1035.e6. doi: 10.1016/j.jaci.2016.08.028. Epub 2016 Sep 30.

DOI:10.1016/j.jaci.2016.08.028
PMID:27697496
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5342918/
Abstract

Patients with germline mutations in , immunodeficiency, lymphoproliferation, and autoimmunity show a distinct pattern of abnormal B-cell maturation in the bone marrow.

摘要

携带 种系突变的患者表现出骨髓中异常 B 细胞成熟的独特模式,伴有免疫缺陷、淋巴组织增生和自身免疫。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec38/5342918/5b09916fd3db/nihms820310f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec38/5342918/5b09916fd3db/nihms820310f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ec38/5342918/5b09916fd3db/nihms820310f1.jpg

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Int J Hematol. 2015 Jul;102(1):59-66. doi: 10.1007/s12185-015-1798-9. Epub 2015 May 8.
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Nat Immunol. 2014 Jan;15(1):88-97. doi: 10.1038/ni.2771. Epub 2013 Oct 28.
3
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5
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8
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