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

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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.

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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

References

  1. Modell V. The impact of physician education and public awareness on early diagnosis of primary immunodeficiencises. Immunol Res. 2007;38:43–7.

    Article  PubMed  Google Scholar 

  2. Modell F. Immunology today and new discoveries: building upon legacies of Dr. Robert A. Good. Immunol Res. 2007;38:48–50.

    Article  PubMed  Google Scholar 

  3. Cunningham-Rundles C, Ponda PP. Molecular defects in T- and B-cell primary immunodeficiency diseases. Nat Rev Immunol. 2005;5:880–92.

    Article  PubMed  CAS  Google Scholar 

  4. Cooper MA, Pommering TL, Korányi K. Primary immunodeficiencies. Am Fam Physician. 2003;68:2001–8.

    PubMed  Google Scholar 

  5. Seymour B, Miles J, Haeney M. Primary antibody deficiency and diagnostic delay. J Clin Pathol. 2005;58:546–7.

    Article  PubMed  CAS  Google Scholar 

  6. Chapel HM. Fortnightly review: consensus on diagnosis and management of primary antibody deficiencies. BMJ. 1994;308:581–5.

    PubMed  CAS  Google Scholar 

  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.

  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. Agency for Healthcare Research and Quality. 2009. http://www.hcup.ahrq.gov, January 2009.

  10. Aetna Member Navigator. 2009. http://www.member.aetna.com/member, January 2009.

  11. Bundorf KM, Royalty A, Baker LC. Health care cost growth among the privately insured. Health Aff. 2009;28(5):1294–304.

    Article  Google Scholar 

  12. Wier LM, Marder WD. Trends in spending for physician services among the privately insured, 2004 and 2008. Thomson Reuters, April 2010.

  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. 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. 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. 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.

  17. Raetzman S. Spending trends under employer-sponsored coverage, 1998 to 2006. Thomson Reuters; 2008.

  18. ESID—European Society for Immunodeficiencies. ESID Registry. 2003. Retrieved April 28, 2010, from http://www.esid.org/esid_registry.php.

  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.

    Article  PubMed  CAS  Google Scholar 

  20. Cunningham-Rundles C. Key aspects for successful immunoglobulin therapy of primary immunodeficiencies. Clin Exp Immunol. 2011;164(Suppl 2):16–9.

    Article  PubMed  Google Scholar 

  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.

    Article  Google Scholar 

  22. Gardulf A, Hammarstrom L, Smith CI. Home treatment of hypogammaglobulinaemia with subcutaneous gammaglobulin by raPI infusion. Lancet. 1991;338:162–6.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  Google Scholar 

  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.

    Article  Google Scholar 

  25. Markert ML, Devlin BH, McCarthy EA. Thymus transplantation. Clin Immunol. 2010;135:236–46.

    Article  PubMed  CAS  Google Scholar 

  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.

    Article  PubMed  CAS  Google Scholar 

  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.

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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.

Author information

Authors and Affiliations

  1. Jeffrey Modell Foundation, 780 Third Avenue, 47th Floor, New York, NY, 10017, USA

    Vicki Modell, Bonnie Gee & Fred Modell

  2. Department of Pediatrics, Interdepartmental Program in Immunology, and Institute for Immunity, Transplantation, and Infection, Stanford University, Stanford, CA, USA

    David B. Lewis

  3. Division of Allergy and Immunology, Children’s Hospital of Philadelphia Research Institute, Children’s Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA

    Jordan S. Orange

  4. Canadian Centre for Primary Immunodeficiency, Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada

    Chaim M. Roifman

  5. Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA

    John M. Routes

  6. Department of Pediatrics, Louisiana State University Health Sciences Center, Division of Allergy/Immunology, Children’s Hospital of New Orleans, New Orleans, LA, USA

    Ricardo U. Sorensen

  7. Division of Immunology and The Manton Center for Orphan Disease Research, Children’s Hospital Boston, Boston, MA, USA

    Luigi D. Notarangelo

Authors
  1. Vicki Modell
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  2. Bonnie Gee
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  3. David B. Lewis
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  4. Jordan S. Orange
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  5. Chaim M. Roifman
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  6. John M. Routes
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  7. Ricardo U. Sorensen
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  8. Luigi D. Notarangelo
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  9. Fred Modell
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Corresponding author

Correspondence to Fred Modell.

Additional information

Jeffrey Modell Foundation: Vicki and Fred Modell established the Jeffrey Modell Foundation (JMF) in 1987, in memory of their son Jeffrey, who died at the age of fifteen from complications of Primary Immunodeficiency (PI)—a genetic condition that is chronic, serious, and often fatal. JMF is a global nonprofit organization dedicated to early diagnosis, meaningful treatments, and cures through research, physician education, public awareness, advocacy, patient support, and newborn screening. There are more than 100 Jeffrey Modell Diagnostic and Research Centers and 230 Referral Centers worldwide. The Foundation has established a Network of 490 expert immunologists in 64 countries spanning six continents. More information about PI can be found at http://www.info4pi.org, by contacting JMF at (212) 819-0200 or info@jmfworld.org.

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Modell, V., Gee, B., Lewis, D.B. et al. Global study of primary immunodeficiency diseases (PI)—diagnosis, treatment, and economic impact: an updated report from the Jeffrey Modell Foundation. Immunol Res 51, 61–70 (2011). https://doi.org/10.1007/s12026-011-8241-y

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