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Different Phenotypic Presentations of X-Linked Lymphoproliferative Disease in Siblings with Identical Mutations.

作者信息

Nademi Zohreh, Radwan Nesrine, Rao Kanchan, Gilmour Kimberly, Worth Austen, Booth Claire

机构信息

Department of Pediatric Immunology, Great Ormond Street Hospital, London, WC1N 3JH, UK.

Pediatric Allergy and Immunology Unit, Children's Hospital, Ain Shams University, Cairo, Egypt.

出版信息

J Clin Immunol. 2019 Jul;39(5):523-526. doi: 10.1007/s10875-019-00649-w. Epub 2019 May 29.

DOI:10.1007/s10875-019-00649-w
PMID:31144249
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7086673/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d824/7086673/776953d76c0b/10875_2019_649_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d824/7086673/776953d76c0b/10875_2019_649_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d824/7086673/776953d76c0b/10875_2019_649_Fig1_HTML.jpg

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本文引用的文献

1
X-Linked Lymphoproliferative Disease Type 1: A Clinical and Molecular Perspective.X 连锁淋巴组织增生性疾病 1 型：临床与分子视角。
Front Immunol. 2018 Apr 4;9:666. doi: 10.3389/fimmu.2018.00666. eCollection 2018.
2
T-cell receptor αβ and CD19 cell-depleted haploidentical and mismatched hematopoietic stem cell transplantation in primary immune deficiency.T 细胞受体 αβ 和 CD19 细胞耗竭的半相合和不合造血干细胞移植治疗原发性免疫缺陷。
J Allergy Clin Immunol. 2018 Apr;141(4):1417-1426.e1. doi: 10.1016/j.jaci.2017.07.008. Epub 2017 Aug 3.
3
Severe Epstein-Barr virus infection in primary immunodeficiency and the normal host.
X连锁淋巴增殖性疾病（XLP1）的自然史：来自一位长期幸存者的经验教训。
Case Reports Immunol. 2020 Aug 26;2020:8841571. doi: 10.1155/2020/8841571. eCollection 2020.
原发性免疫缺陷及正常宿主中的严重爱泼斯坦-巴尔病毒感染
Br J Haematol. 2016 Nov;175(4):559-576. doi: 10.1111/bjh.14339. Epub 2016 Oct 17.
4
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.X 连锁淋巴组织增生性疾病源于 SAP/SH2D1A 缺陷：疾病表现、治疗和转归的多中心研究。
Blood. 2011 Jan 6;117(1):53-62. doi: 10.1182/blood-2010-06-284935. Epub 2010 Oct 6.
5
X-linked recessive progressive combined variable immunodeficiency (Duncan's disease).X连锁隐性进行性联合可变免疫缺陷（邓肯病）。
Lancet. 1975 Apr 26;1(7913):935-40. doi: 10.1016/s0140-6736(75)92004-8.