Article

Immunologic Research

, 51:61

First online:

Global study of primary immunodeficiency diseases (PI)—diagnosis, treatment, and economic impact: an updated report from the Jeffrey Modell Foundation

  • Vicki ModellAffiliated withJeffrey Modell Foundation
  • , Bonnie GeeAffiliated withJeffrey Modell Foundation
  • , David B. LewisAffiliated withDepartment of Pediatrics, Interdepartmental Program in Immunology, and Institute for Immunity, Transplantation, and Infection, Stanford University
  • , Jordan S. OrangeAffiliated withDivision of Allergy and Immunology, Children’s Hospital of Philadelphia Research Institute, Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine
  • , Chaim M. RoifmanAffiliated withCanadian Centre for Primary Immunodeficiency, Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children and the University of Toronto
  • , John M. RoutesAffiliated withDepartment of Pediatrics, Medical College of Wisconsin
  • , Ricardo U. SorensenAffiliated withDepartment of Pediatrics, Louisiana State University Health Sciences Center, Division of Allergy/Immunology, Children’s Hospital of New Orleans
  • , Luigi D. NotarangeloAffiliated withDivision of Immunology and The Manton Center for Orphan Disease Research, Children’s Hospital Boston
  • , Fred ModellAffiliated withJeffrey Modell Foundation Email author 

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Abstract

A large population of patients with recurring infections are undiagnosed or under diagnosed and Primary Immunodeficiency (PI) is more common than had been previously estimated. The results strongly indicate the measurable impact of Physician Education and Public Awareness in identifying patients with an underlying PI. The Jeffrey Modell Centers Network (JMCN) provides the infrastructure for referral, diagnosis and appropriate treatment. All disease classifications and identified defects increased significantly over the study period. Quality of Life for referred and diagnosed patients dramatically improved compared to undiagnosed patients. There is a substantial cost savings for diagnosed patients compared to undiagnosed, even if regular IgG is required. The SPIRIT® Software successfully identified patients with PI in a large database and at three pilot sites. The Software was successfully tested for specificity and sensitivity.

Keywords

Primary immunodeficiencies (PI) Jeffrey Modell Foundation (JMF) Jeffrey Modell Centers Network (JMCN) Immunoglobulin replacement therapy Awareness Economic impact Diagnosis Treatment