Immunologic Research

, 51:61 | Cite as

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

  • Vicki Modell
  • Bonnie Gee
  • David B. Lewis
  • Jordan S. Orange
  • Chaim M. Roifman
  • John M. Routes
  • Ricardo U. Sorensen
  • Luigi D. Notarangelo
  • Fred Modell


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.


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



Primary immunodeficiency


The Jeffrey Modell Foundation


Jeffrey Modell Centers Network


Physician Education and Public Awareness Campaign


Software for primary immunodeficiency recognition, intervention, and tracking


Immunoglobulin replacement therapy


Hematopoietic stem cell transplantation


European society for immunodeficiencies



JMF acknowledges with gratitude the dedication of the physician experts who provided the documentation needed to complete this study of patients with PI. JMF also acknowledges with appreciation ESID and the data provided through their online registry at This publication was supported in part by Grant/Cooperative Agreement # 5H75DP225146-03 from the Centers for Disease Control and Prevention (CDC). JMF thanks Dr. Luigi D. Notarangelo for critical review and interpretation of the data. Its contents are solely the responsibility of the authors and do not necessarily represent the official views of CDC.

Supplementary material

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Supplementary material 1 (DOCX 853 kb)


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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Vicki Modell
    • 1
  • Bonnie Gee
    • 1
  • David B. Lewis
    • 2
  • Jordan S. Orange
    • 3
  • Chaim M. Roifman
    • 4
  • John M. Routes
    • 5
  • Ricardo U. Sorensen
    • 6
  • Luigi D. Notarangelo
    • 7
  • Fred Modell
    • 1
  1. 1.Jeffrey Modell FoundationNew YorkUSA
  2. 2.Department of Pediatrics, Interdepartmental Program in Immunology, and Institute for Immunity, Transplantation, and InfectionStanford UniversityStanfordUSA
  3. 3.Division of Allergy and Immunology, Children’s Hospital of Philadelphia Research Institute, Children’s Hospital of PhiladelphiaUniversity of Pennsylvania School of MedicinePhiladelphiaUSA
  4. 4.Canadian Centre for Primary Immunodeficiency, Division of Immunology and Allergy, Department of PediatricsThe Hospital for Sick Children and the University of TorontoTorontoCanada
  5. 5.Department of PediatricsMedical College of WisconsinMilwaukeeUSA
  6. 6.Department of Pediatrics, Louisiana State University Health Sciences Center, Division of Allergy/ImmunologyChildren’s Hospital of New OrleansNew OrleansUSA
  7. 7.Division of Immunology and The Manton Center for Orphan Disease ResearchChildren’s Hospital BostonBostonUSA

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