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Research Article: Piloting an automated query and scoring system to facilitate APDS patient identification from health systems

Date Published: 2025-01-21

Abstract:
Introduction: Patients with activated PI3K? syndrome (APDS) may elude diagnoses for nearly a decade. Methods to hasten the identification of these patients, and other patients with inborn errors of immunity (IEIs), are needed. We sought to demonstrate that querying electronic health record (EHR) systems by aggregating disparate signs into a risk score can identify these patients.

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