Electronic health record signatures identify undiagnosed patients with common variable immunodeficiency disease
Ruth Johnson,
Alexis V. Stephens,
Rachel Mester
et al.
Abstract: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, ranging from infections to autoimmunity to inflammatory conditions, overlapping with other more common d… Show more
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