Piloting an automated query and scoring system to facilitate APDS patient identification from health systems.

Journal: Frontiers in immunology
Published Date: Jan 21, 2025

Abstract

INTRODUCTION: Patients with activated PI3Kδ 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.

Authors

  • Amy M FitzPatrick
    Precision AQ, Bethesda, MD, United States.
  • Aaron T Chin
    Department of Pediatrics, University of California, Los Angeles, Los Angeles, CA, United States.
  • Sharon Nirenberg
    Division of Informatics and Data Architecture, Icahn School of Medicine, Departments of Scientific Computing and Data, Mount Sinai School of Medicine, New York, NY, United States.
  • Charlotte Cunningham-Rundles
    Division of Clinical Immunology, Icahn School of Medicine, Departments of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, United States.
  • Keith Sacco
    Department of Child Health, University of Arizona College of Medicine and Division of Pulmonology, Section of Allergy-Immunology, Phoenix Children's Hospital, Phoenix, AZ, United States.
  • Jesse Perlmutter
    Phoenix Children's Hospital, Phoenix, AZ, United States.
  • Joseph F Dasso
    Department of Pediatric Allergy and Immunology, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.
  • Athanasios Tsalatsanis
    Research Methodology and Biostatistics Core, Morsani College of Medicine, University of South Florida Health, St. Petersburg, FL, United States.
  • Jay Maru
    Management Analyst, Research Methodology and Biostatistics Core, Morsani College of Medicine, University of South Florida Health, St. Petersburg, FL, United States.
  • Jessica Creech
    Department of Pediatrics, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.
  • Jolan E Walter
    Department of Pediatric Allergy and Immunology, University of South Florida at Johns Hopkins All Children's Hospital, St. Petersburg, FL, United States.
  • Nicholas Hartog
    Division of Allergy and Immunology, Helen DeVos Children's Hospital and Corewell Health, Grand Rapids, Michigan State University College of Human Medicine, East Lansing, MI, United States.
  • Neema Izadi
    Division of Clinical Immunology and Allergy, Children's Hospital Los Angeles, University of Southern California, Los Angeles, CA, United States.
  • Mandy Palmucci
    Division of Information Services, Children's Hospital Los Angeles, University of Southern California, Los Angeles, CA, United States.
  • Manish J Butte
    Department of Pediatrics and Department of Microbiology, Immunology, and Molecular Genetics, University of California, Los Angeles, Los Angeles, CA, United States.
  • Klaus Loewy
    Department of Information Services, Texas Children's Hospital, Houston, TX, United States.
  • Anurag Relan
    Pharming Healthcare, Inc., Warren, NJ, United States.
  • Nicholas L Rider
    Department of Health Systems & Implementation Science, Virginia Tech Carilion School of Medicine, Division of Allergy-Immunology Carilion Clinic, Roanoke, VA, United States.

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