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
Article

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 

Abbreviations

PI

Primary immunodeficiency

JMF

The Jeffrey Modell Foundation

JMCN

Jeffrey Modell Centers Network

PEPAC

Physician Education and Public Awareness Campaign

SPIRIT®

Software for primary immunodeficiency recognition, intervention, and tracking

IgG

Immunoglobulin replacement therapy

HSCT

Hematopoietic stem cell transplantation

ESID

European society for immunodeficiencies

Notes

Acknowledgments

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 http://www.esid.org. 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

12026_2011_8241_MOESM1_ESM.docx (854 kb)
Supplementary material 1 (DOCX 853 kb)

References

  1. 1.
    Modell V. The impact of physician education and public awareness on early diagnosis of primary immunodeficiencises. Immunol Res. 2007;38:43–7.PubMedCrossRefGoogle Scholar
  2. 2.
    Modell F. Immunology today and new discoveries: building upon legacies of Dr. Robert A. Good. Immunol Res. 2007;38:48–50.PubMedCrossRefGoogle Scholar
  3. 3.
    Cunningham-Rundles C, Ponda PP. Molecular defects in T- and B-cell primary immunodeficiency diseases. Nat Rev Immunol. 2005;5:880–92.PubMedCrossRefGoogle Scholar
  4. 4.
    Cooper MA, Pommering TL, Korányi K. Primary immunodeficiencies. Am Fam Physician. 2003;68:2001–8.PubMedGoogle Scholar
  5. 5.
    Seymour B, Miles J, Haeney M. Primary antibody deficiency and diagnostic delay. J Clin Pathol. 2005;58:546–7.PubMedCrossRefGoogle Scholar
  6. 6.
    Chapel HM. Fortnightly review: consensus on diagnosis and management of primary antibody deficiencies. BMJ. 1994;308:581–5.PubMedGoogle Scholar
  7. 7.
    Modell F, Puente D, Modell V. From genotype to phenotype. Further studies measuring the impact of a Physician Education and Public Awareness Campaign on early diagnosis and management of Primary Immunodeficiencies. Immunol Res. Humana Press, an imprint of Springer Publishing. 2009;44(1–3):132–49.Google Scholar
  8. 8.
    International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies, Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, Hammarstrom L, Nonoyama S, Ochs HD, Puck J, Roifman C, Seger R, Wedgwood J. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol. 2009;124:1161–78. Erratum in: J Allergy Clin Immunol. 2010;125:771–3.Google Scholar
  9. 9.
    Agency for Healthcare Research and Quality. 2009. http://www.hcup.ahrq.gov, January 2009.
  10. 10.
    Aetna Member Navigator. 2009. http://www.member.aetna.com/member, January 2009.
  11. 11.
    Bundorf KM, Royalty A, Baker LC. Health care cost growth among the privately insured. Health Aff. 2009;28(5):1294–304.CrossRefGoogle Scholar
  12. 12.
    Wier LM, Marder WD. Trends in spending for physician services among the privately insured, 2004 and 2008. Thomson Reuters, April 2010.Google Scholar
  13. 13.
    Centers for Medicare and Medicaid Services. Berenson-eggers type of service (BETOS). 2010. Retrieved 28 April 2010, from http://www.cms.gov/HCPCSReleaseCodeSets/20_BETOS.asp.
  14. 14.
    Centers for Medicare and Medicaid Services. Medicare current beneficiary survey (MCBS). 2003. Retrieved 16 April 2008, from http://www.cms.gov/mcbs/downloads/HHC2003section1.pdf.
  15. 15.
    Congressional Budget Office. Factors underlying the growth in medicare’s spending for physicians’ services. 2007. Retrieved 28 April 2010, from http://www.cbo.gov/ftpdocs/81xx/doc8193/06-06-MedicareSpending.pdf.
  16. 16.
    Fronstin P. Sources of health insurance and characteristics of the uninsured: analysis of the March 2007 current population survey. Vol 310. EBRI (Employee Benefit Research Institute) Issue Brief No. 310, October 2007, Washington, DC; 2007. p. 1–36.Google Scholar
  17. 17.
    Raetzman S. Spending trends under employer-sponsored coverage, 1998 to 2006. Thomson Reuters; 2008.Google Scholar
  18. 18.
    ESID—European Society for Immunodeficiencies. ESID Registry. 2003. Retrieved April 28, 2010, from http://www.esid.org/esid_registry.php.
  19. 19.
    Wood P, Stanworth S, Burton J, Jones A, Peckham DG, Green T, Hyde C, Chapel H. UK primary immunodeficiency network. Recognition, clinical diagnosis and management of patients with primary antibody deficiencies: a systematic review. Clin Exp Immunol. 2007;149:410–23.PubMedCrossRefGoogle Scholar
  20. 20.
    Cunningham-Rundles C. Key aspects for successful immunoglobulin therapy of primary immunodeficiencies. Clin Exp Immunol. 2011;164(Suppl 2):16–9.PubMedCrossRefGoogle Scholar
  21. 21.
    Lucas M, Lee M, Lortan J, Lopez-Granados E, Misbah S, Chapel H. Infection outcomes in patients with common variable immunodeficiency disorders: relationship to immunoglobulin therapy over 22 years. J Allergy Clin Immunol. 2010;125:1354.e4–1360.e4.CrossRefGoogle Scholar
  22. 22.
    Gardulf A, Hammarstrom L, Smith CI. Home treatment of hypogammaglobulinaemia with subcutaneous gammaglobulin by raPI infusion. Lancet. 1991;338:162–6.PubMedCrossRefGoogle Scholar
  23. 23.
    Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, Conley ME, Fleisher TA, Gaspar HB, Kohn DB, Ochs HD, O’Reilly RJ, Rizzo JD, Roifman CM, Small TN, Shearer WT. Workshop participants. Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. J Allergy Clin Immunol. 2009;124:1152.e12–1160.e12.CrossRefGoogle Scholar
  24. 24.
    Gennery AR, Slatter MA, Grandin L, Taupin P, Cant AJ, Veys P, Amrolia PJ, Gaspar HB, Davies EG, Friedrich W, Hoenig M, Notarangelo LD, Mazzolari E, Porta F, Bredius RG, Lankester AC, Wulffraat NM, Seger R, Güngür T, Fasth A, Sedlacek P, Neven B, Blanche S, Fischer A, Cavazzana-Calvo M, Landais P. Inborn errors working party of the European Group for blood and marrow transplantation; European Society for Immunodeficiency. Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better? J Allergy Clin Immunol. 2010;126:602.e1-11–610.e1-11.CrossRefGoogle Scholar
  25. 25.
    Markert ML, Devlin BH, McCarthy EA. Thymus transplantation. Clin Immunol. 2010;135:236–46.PubMedCrossRefGoogle Scholar
  26. 26.
    Fischer A, Hacein-Bey-Abina S, Cavazzana-Calvo M. Gene therapy for primary adaptive immune deficiencies. J Allergy Clin Immunol. 2011;127(6):1356–9.PubMedCrossRefGoogle Scholar
  27. 27.
    INFO4PI—Primary Immunodeficiency Resource Center. Retrieved on April 28, 2011 http://www.info4pi.org/aboutPI/index.cfm?section=aboutPI&content=warningsigns&CFID=29220&CFTOKEN=75204275.

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

Personalised recommendations