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Morpholino-based correction of hypomorphic ZAP70 mutation in an adult with combined immunodeficiency.

作者信息

Gavino Christina, Landekic Marija, Zeng Jibin, Wu Ning, Jung Sungmi, Zhong Ming-Chao, Cohen-Blanchet Alexis, Langelier Mélanie, Neyret Odile, Lejtenyi Duncan, Rochefort Claudia, Cotton-Montpetit Judith, McCusker Christine, Mazer Bruce, Veillette André, Vinh Donald C

机构信息

Infectious Disease Susceptibility Program, McGill University Health Centre (MUHC) and Research Institute-MUHC (RI-MUHC), Montreal, Quebec, Canada.

Laboratory of Molecular Oncology, Institut de recherches cliniques de Montréal (IRCM), Montreal, Quebec, Canada.

出版信息

J Allergy Clin Immunol. 2017 May;139(5):1688-1692.e10. doi: 10.1016/j.jaci.2017.02.002. Epub 2017 Feb 17.

DOI:10.1016/j.jaci.2017.02.002
PMID:28216435
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7126384/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d2f/7126384/0e0c59eabb12/fx4_lrg.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d2f/7126384/fc5138fcf21a/gr1_lrg.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d2f/7126384/bb3b5258f9e3/gr2_lrg.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d2f/7126384/361de2869f83/fx1_lrg.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d2f/7126384/697486239dc0/fx2_lrg.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d2f/7126384/f41106e450bc/fx3_lrg.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d2f/7126384/0e0c59eabb12/fx4_lrg.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d2f/7126384/fc5138fcf21a/gr1_lrg.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d2f/7126384/bb3b5258f9e3/gr2_lrg.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d2f/7126384/361de2869f83/fx1_lrg.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d2f/7126384/697486239dc0/fx2_lrg.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d2f/7126384/f41106e450bc/fx3_lrg.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7d2f/7126384/0e0c59eabb12/fx4_lrg.jpg

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Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.
2
A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70.一种由ZAP-70基因的低表达和激活突变共同导致的新型人类自身免疫综合征。
J Exp Med. 2016 Feb 8;213(2):155-65. doi: 10.1084/jem.20150888. Epub 2016 Jan 18.
3
From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.从FastQ数据到高可信度变异检测：基因组分析工具包最佳实践流程
一种导致完全 TYK2 缺陷的新型纯合突变，伴有严重的呼吸道病毒感染、EBV 驱动的淋巴瘤和 Jamestown Canyon 病毒脑炎。
J Clin Immunol. 2023 Nov;43(8):2011-2021. doi: 10.1007/s10875-023-01580-x. Epub 2023 Sep 11.
4
Two patients with ZAP-70 deficiency in China present with a different genetic, immunological, and clinical phenotype.两名 ZAP-70 缺陷症患者在中国呈现出不同的遗传、免疫和临床表型。
BMC Pediatr. 2023 Apr 26;23(1):195. doi: 10.1186/s12887-023-03975-6.
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Novel ZAP-70-Related Immunodeficiency Presenting with Epstein-Barr Virus Lymphoproliferative Disorder and Hemophagocytic Lymphohistiocytosis.伴有爱泼斯坦-巴尔病毒淋巴增殖性疾病和噬血细胞性淋巴组织细胞增生症的新型ZAP-70相关免疫缺陷。
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