期刊
JOURNAL OF CLINICAL IMMUNOLOGY
卷 40, 期 1, 页码 66-81出版社
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s10875-020-00758-x
关键词
IUIS; primary immune deficiency; inborn errors of immunity; immune dysregulation; autoinflammatory disorders; classification
类别
资金
- NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES [ZIAAI000646] Funding Source: NIH RePORTER
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification into ten tables. This phenotypic classification is user-friendly and serves as a resource for clinicians at the bedside. There are now 430 single-gene IEI underlying phenotypes as diverse as infection, malignancy, allergy, autoimmunity, and autoinflammation. We herein report the 2019 phenotypic classification, including the 65 new conditions. The diagnostic algorithms are based on clinical and laboratory phenotypes for each of the ten broad categories of IEI.
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