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Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient.

作者信息

Alsohime Fahad, Almaghamsi Talal, Basha Talal A, Alardati Hosam, Alghamdi Malak, Hawsawi Yousef Mohammed

机构信息

Pediatric Intensive Care Unit, Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, PO Box: 7805, Pediatric number 39, Riyadh, 11472, Saudi Arabia.

Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia.

出版信息

J Clin Immunol. 2021 Jan;41(1):217-220. doi: 10.1007/s10875-020-00870-y. Epub 2020 Sep 28.

DOI:10.1007/s10875-020-00870-y
PMID:32986178
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7521190/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5b93/7521190/577b1b4261b5/10875_2020_870_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5b93/7521190/0b132b0c26d5/10875_2020_870_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5b93/7521190/577b1b4261b5/10875_2020_870_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5b93/7521190/0b132b0c26d5/10875_2020_870_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5b93/7521190/577b1b4261b5/10875_2020_870_Fig2_HTML.jpg

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Pulmonary Involvement in Patients With Hemophagocytic Lymphohistiocytosis.噬血细胞性淋巴组织细胞增生症患者的肺部受累情况
Chest. 2016 May;149(5):1294-301. doi: 10.1016/j.chest.2015.11.004. Epub 2016 Jan 13.
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Whole-Exome Sequencing Reveals Mutations in Genes Linked to Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome in Fatal Cases of H1N1 Influenza.
BARD1 之谜：肿瘤抑制因子是癌症易感性基因。
BMC Cancer. 2022 Jun 1;22(1):599. doi: 10.1186/s12885-022-09567-4.
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Genetic data sharing and artificial intelligence in the era of personalized medicine based on a cross-sectional analysis of the Saudi human genome program.基于沙特人类基因组计划的横断面分析的个性化医学时代的遗传数据共享和人工智能。
Sci Rep. 2022 Jan 26;12(1):1405. doi: 10.1038/s41598-022-05296-7.
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Association of SNPs within TMPRSS6 and BMP2 genes with iron deficiency status in Saudi Arabia.TMPRSS6 和 BMP2 基因内 SNPs 与沙特阿拉伯缺铁状况的关联。
PLoS One. 2021 Nov 15;16(11):e0257895. doi: 10.1371/journal.pone.0257895. eCollection 2021.
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In silico modeling of the interaction between TEX19 and LIRE1, and analysis of TEX19 gene missense SNPs.TEX19 与 LIRE1 相互作用的计算机建模，以及 TEX19 基因突变的分析。
Mol Genet Genomic Med. 2021 Jul;9(7):e1707. doi: 10.1002/mgg3.1707. Epub 2021 May 26.
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