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Primary Immunodeficiency Diseases in Australia and New Zealand

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Abstract

Introduction

Despite rapid developments in the science of primary immunodeficiency diseases (PID), population characteristics and the burden of disease are poorly characterized. Aggregated data on PID via patient registries are a key component of the public health response. The web-enabled Australasian Society of Clinical Immunology and Allergy PID Register was designed and implemented to address gaps in knowledge of PID.

Methods

The register provided a cumulative, cross-sectional survey of PID patients in Australia and New Zealand via an online, single time point, center-based, voluntarily recalled, and patient-consented questionnaire.

Result

Eighty-eight centers reported 1,209 patients across 56 separate PID syndromes. The study prevalence (cases per 100,000 population) was 5.6 for Australia, 12.4 for the state of South Australia, and 4.9 for Australia and New Zealand combined. Predominately antibody deficiency syndromes accounted for 77% of patients. Common variable immunodeficiency was the most common diagnosis. Patients were geographically dispersed with 80% of centers reporting caseloads of less than 20 patients. Potentially preventable complications of disease were common. Immunoglobulin replacement therapy was used in 30 conditions with 26.5% of the total recipients having antibody deficiency disorders with normal serum IgG.

Conclusion

PID in Australia and New Zealand are prevalent, clinically diverse, geographically dispersed, and are characterized by high rates of potentially preventable morbidity and resource utilization. A public health focus on PID is required, including strategies to correct disparities in access to care, improve molecular diagnostics and reduce preventable complications of disease. Further studies in antibody deficiency syndromes with normal serum IgG are required.

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Abbreviations

ASCIA:

Australasian Society of Clinical Immunology and Allergy

CVID:

common variable immunodeficiency

IRT:

immunoglobulin replacement therapy

IVIg:

intravenous immunoglobulin

PID:

primary immunodeficiency disease

SCID:

severe combined immunodeficiency

References

  1. Lindegren ML, Kobrynski L, Rasmussen SA, Moore CA, Grosse SD, Vanderford ML, et al. Applying public health strategies to primary immunodeficiency diseases: a potential approach to genetic disorders. Morb Mortal Wkly Rep 2004;53:1–29.

    Google Scholar 

  2. European Commission. Consensus report and recommendations. in: Proceedings of the European Primary Immunodeficiencies Consensus Conference, Langen, Germany; 2006.

  3. Notarangelo L, Casanova JL, Conley ME, Chapel H, Fischer A, Puck J, et al. Primary immunodeficiency diseases: an update. J Allergy Clin Immunol 2006;117:883–96.

    Article  PubMed  Google Scholar 

  4. Baumgart KW, Britton WJ, Kemp A, French M, Roberton D. The spectrum of primary immunodeficiency disorders in Australia. J Allergy Clin Immunol 1997;100:415–23.

    Article  PubMed  CAS  Google Scholar 

  5. Australian Bureau of Statistics. Australian Demographic Statistics: 3101.0; June 2006.

  6. Statistics New Zealand. National Population Estimates; June 2006.

  7. Aittoniemi J, Koskinen S, Laippala P, Laine S, Miettinen A. The significance of IgG subclass deficiency and mannan-binding lectin (MBL) for susceptibility to infection in apparently healthy adults with IgA deficiency. Clin Exp Immunol 1999;116:505–8.

    Article  PubMed  CAS  Google Scholar 

  8. Bonilla FA, Bernstein IL, Khan DA, Ballas ZK, Chinen J, Frank MM, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. Ann Allergy Asthma Immunol 2005;94:S1–63.

    Article  PubMed  Google Scholar 

  9. 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 

  10. Australasian Society of Clinical Immunology and Allergy. Clinical Immunology and Allergy Workforce Survey; 2007.

  11. Roche P. Tuberculosis notifications in Australia, 2004. Commun Dis Intell 2006;30:93–101.

    PubMed  Google Scholar 

  12. Orange JS, Hossny EM, Weiler CR, Ballow M, Berger M, Bonilla FA, et al. Use of intravenous immunoglobulin in human disease: a review of evidence by members of the Primary Immunodeficiency Committee of the American Academy of Allergy, Asthma and Immunology. J Allergy Clin Immunol 2006;117:S525–53.

    Article  PubMed  CAS  Google Scholar 

  13. Buckley RH. Immunoglobulin G subclass deficiency: fact or fancy? Curr Allergy Asthma Rep 2002;2:356–60.

    Article  PubMed  Google Scholar 

  14. Casanova JL, Fieschi C, Bustamante J, Reichenbach J, Remus N, von Bernuth H, et al. From idiopathic infectious diseases to novel primary immunodeficiencies. J Allergy Clin Immunol 2005;116:426–30.

    Article  PubMed  CAS  Google Scholar 

  15. Stray-Pedersen A, Abrahamsen TG, Froland SS. Primary immunodeficiency diseases in Norway. J Clin Immunol 2000;20: 477–85.

    Article  PubMed  CAS  Google Scholar 

  16. Llambi MJ, Etxagibel Galdos A, Matamoros N. The Spanish Registry of Primary Immunodeficiencies (REDIP). Allergol Immunopathol (Madr) 2001;29:122–5.

    Google Scholar 

  17. Abuzakouk M, Feighery C. Primary immunodeficiency disorders in the Republic of Ireland: first report of the national registry in children and adults. J Clin Immunol 2005;25:73–7.

    Article  PubMed  CAS  Google Scholar 

  18. Costabile M, Quach A, Ferrante A. Molecular approaches in the diagnosis of primary immunodeficiency diseases. Hum Mutat 2006;27:1163–73.

    Article  PubMed  CAS  Google Scholar 

  19. Thickett KM, Kumararatne DS, Banerjee AK, Dudley R, Stableforth DE. Common variable immune deficiency: respiratory manifestations, pulmonary function and high-resolution CT scan findings. Q J Med 2002;95:655–62.

    CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  21. De Gracia J, Vendrell M, Alvarez A, Pallisa E, Rodrigo MJ, de la Rosa D, et al. Immunoglobulin therapy to control lung damage in patients with common variable immunodeficiency. Int Immunopharmacol 2004;4:745–53.

    Article  PubMed  CAS  Google Scholar 

  22. Vendrell M, de Gracia J, Rodrigo MJ, Cruz MJ, Alvarez A, Garcia M, et al. Antibody production deficiency with normal IgG levels in bronchiectasis of unknown aetiology. Chest 2005;127:197–204.

    Article  PubMed  CAS  Google Scholar 

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Acknowledgements

The ASCIA PID register receives unrestricted educational grants from CSL Bioplasma, ASCIA, and Octapharma Ltd. We thank the National Blood Authority of Australia for data on IVIg use and supply. We gratefully acknowledge all individuals who were involved in registering patients at their reporting centers. We also thank K Baumgart, L Bielby, W Britton, M Codarini, M Cook, E Elliot, M French, K Jayne, A Kakakios, A Kemp, R Loblay, K Maddock, M Schmidt, J Smith, A Turner, R Walls, and A Woodhouse for their invaluable contribution to this project.

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Authors and Affiliations

  1. Department of Immunology, Concord Hospital, Sydney, Australia

    Philippa Kirkpatrick & Sean Riminton

Authors
  1. Philippa Kirkpatrick
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  2. Sean Riminton
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Corresponding author

Correspondence to Sean Riminton.

Additional information

This article was written by the authors on behalf of the Australasian Society for Clinical Immunology and Allergy Primary Immunodeficiency Diseases Committee, Australia and New Zealand, which is also composed of E Benson, K Bleasel, W Britton, M Cook, M Empson, D Gillis, R Loh, J Peake, M Tang, J Sinclair, J Smart, M Wong, and J Ziegler.

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Kirkpatrick, P., Riminton, S. Primary Immunodeficiency Diseases in Australia and New Zealand. J Clin Immunol 27, 517–524 (2007). https://doi.org/10.1007/s10875-007-9105-z

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  • DOI: https://doi.org/10.1007/s10875-007-9105-z

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