Article

Electronic health record signatures identify undiagnosed patients with Common Variable Immunodeficiency Disease

2022-08-03

Abstract excerpt

One of the most common human inborn errors of immunity (IEI) is Common Variable Immunodeficiency (CVID), a heterogeneous group of disorders characterized by a state of functional and/or quantitative antibody deficiency and impaired B-cell responses. Although over 30 genes have been associated with the CVID phenotype, over half the CVID patients have no identified monogenic variant. There are currently no existing...

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Literature Corpus work: 93583e19-90a6-5070-b3e2-5fa122a024ca
DOI: 10.1101/2022.08.03.22278352

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