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Article

Electronic health record signatures identify undiagnosed patients with common variable immunodeficiency disease.

Science translational medicine - 1 May 2024

Johnson Ruth, Stephens Alexis V, Mester Rachel, Knyazev Sergey, Kohn Lisa A, Freund Malika K, Bondhus Leroy, Hill Brian L, Schwarz Tommer, Zaitlen Noah, Arboleda Valerie A, A Bastarache Lisa, Pasaniuc Bogdan, Butte Manish J

Abstract excerpt

Human inborn errors of immunity include rare disorders entailing functional and quantitative antibody deficiencies due to impaired B cells called the common variable immunodeficiency (CVID) phenotype. Patients with CVID face delayed diagnoses and treatments for 5 to 15 years after symptom onset because the disorders are rare (prevalence of ~1/25,000), and there is extensive heterogeneity in CVID phenotypes,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 38691621
DOI: 10.1126/scitranslmed.ade4510
PMCID: PMC11402387

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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