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Supplementation of the ESID registry working definitions for the clinical diagnosis of inborn errors of immunity with encoded human phenotype ontology (HPO) terms.

作者信息

Gasteiger Lukas M, Robinson Peter N, Pazmandi Julia, Boztug Kaan, Seppänen Mikko R J, Seidel Markus G

机构信息

Research Unit for Pediatric Hematology and Immunology, Division of Pediatric Hemato-Oncology, Department of Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria.

The Jackson Laboratory for Genomic Medicine, Farmington, Conn.

出版信息

J Allergy Clin Immunol Pract. 2020 May;8(5):1778. doi: 10.1016/j.jaip.2020.02.019.

DOI:10.1016/j.jaip.2020.02.019
PMID:32389282
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9393911/
Abstract
摘要

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本文引用的文献

1
Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee.人类先天性免疫缺陷：国际免疫学联盟专家委员会 2019 年分类更新。
J Clin Immunol. 2020 Jan;40(1):24-64. doi: 10.1007/s10875-019-00737-x. Epub 2020 Jan 17.
2
The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.欧洲免疫缺陷学会（ESID）用于免疫固有性疾病临床诊断的注册工作定义。
J Allergy Clin Immunol Pract. 2019 Jul-Aug;7(6):1763-1770. doi: 10.1016/j.jaip.2019.02.004. Epub 2019 Feb 15.
3
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.人类表型本体（HPO）知识库和资源的扩展。
Nucleic Acids Res. 2019 Jan 8;47(D1):D1018-D1027. doi: 10.1093/nar/gky1105.
4
Harmonising phenomics information for a better interoperability in the rare disease field.协调表型组学信息以提高罕见病领域的互操作性。
Eur J Med Genet. 2018 Nov;61(11):706-714. doi: 10.1016/j.ejmg.2018.01.013. Epub 2018 Feb 7.
5
The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.人类表型本体论：一种用于注释和分析人类遗传病的工具。
Am J Hum Genet. 2008 Nov;83(5):610-5. doi: 10.1016/j.ajhg.2008.09.017. Epub 2008 Oct 23.