Journal of Clinical Immunology

, Volume 31, Issue 1, pp 99–105

Primary Immunodeficiencies: A 27-Year Review at a Tertiary Paediatric Hospital in Cape Town, South Africa

  • Reené Naidoo
  • Lisa Ungerer
  • Margaret Cooper
  • Sandra Pienaar
  • Brian S. Eley
Article

Abstract

Introduction

The epidemiology of primary immunodeficiencies (PID) is not well documented in Africa. The objective of this study was to describe the spectrum of PID at a tertiary paediatric centre in South Africa.

Methods

A retrospective study was conducted on 168 patients diagnosed with PID from 1983 to 2009.

Results

Over the study period, antibody deficiencies predominated (51%) followed by well-defined syndromes (24%). Common variable immunodeficiency was the commonest antibody deficiency. The mean age of diagnosis was 51 months overall but decreased significantly to 35 months over the last 9 years. Recurrent infections were the most common presenting complaint (74%). The overall mortality rate was 25% while combined immunodeficiencies accounted for 40% of the deaths.

Conclusions

The spectrum of PID in South Africa was similar to international trends. The declining mean age of diagnosis indicated improved recognition of PID. Future research should focus on identifying children with PID more effectively.

Keywords

Primary immunodeficiencies children South Africa epidemiology 

References

  1. 1.
    Ballow M, Notarangelo L, Grimbacher B, Cunningham-Rundles C, Stein M, Helbert M, et al. Immunodeficiencies. Clin Exp Immunol. 2009;158(supp 1):14–22.CrossRefPubMedGoogle Scholar
  2. 2.
    International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies, Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, et al. Primary immunodeficiencies. J Allergy Clin Immunol. 2009;124:1161–78.CrossRefPubMedGoogle Scholar
  3. 3.
    Gathmann B, Grimbacher B, Beauté J, Dudoit Y, Mahlaoui N, Fischer A, et al. The European Internet-based patient and research database for primary immunodeficiencies: results 2006–2008. Clin Exp Immunol. 2009;157(supp 1):3–11.CrossRefPubMedGoogle Scholar
  4. 4.
    Leiva LE, Zelazco M, Oleastro M, Carneiro-Sampaio M, Condino-Neto A, Costa-Carvalho BT, et al. Primary immunodeficiency diseases in Latin America: the second report of the LAGID registry. J Clin Immunol. 2007;27(1):101–8.CrossRefPubMedGoogle Scholar
  5. 5.
    Kirkpatrick P, Riminton S. Primary immunodeficiency diseases in Australia and New Zealand. J Clin Immunol. 2007;27:517–24.CrossRefPubMedGoogle Scholar
  6. 6.
    Joshi AY, Iyer VN, Hagan JB, St Sauver JL, Boyce TG. Incidence and temporal trends of primary immunodeficiency: a population-based cohort study. Mayo Clin Proc. 2009;84(1):16–22.CrossRefPubMedGoogle Scholar
  7. 7.
    Benjasupattananan P, Simasathein T, Vichyanond P, Leungwedchakarn V, Visitsunthorn N, Pacharn P, et al. Clinical characteristics and outcomes of primary immunodeficiencies in Thai children: an 18 year experience from a tertiary care center. J Clin Immunol. 2009;29:357–64.CrossRefPubMedGoogle Scholar
  8. 8.
    Lee WI, Kuo ML, Huang JL, Lin SJ, CJ WU. Distribution and clinical aspects of primary immunodeficiencies in a Taiwan pediatric tertiary hospital during a 20-year period. J Clin Immunol. 2005;25:162–73.CrossRefPubMedGoogle Scholar
  9. 9.
    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. 2009;44:132–49.CrossRefPubMedGoogle Scholar
  10. 10.
    Eley BS, Hughes J, Cooper M, Pienaar S, Beatty DW. Primary immunodeficiency at Red Cross War Memorial Children’s Hospital. S Afr Med J. 1997;87(12):1684–8.PubMedGoogle Scholar
  11. 11.
    Reda SM, Afifi HM, Amine MM. Primary immunodeficiency diseases in Egyptian children: a single-center study. J Clin Immunol. 2009;29:343–51.CrossRefPubMedGoogle Scholar
  12. 12.
    Bejaoui BM, Barbouche MR, Sassi A, Larguche B, Miladi N, Bouguerra A, et al. Primary immunodeficiency in Tunisia: study of 152 cases. Arch Pediatr. 1997;4(9):827–31.CrossRefPubMedGoogle Scholar
  13. 13.
    Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Clin Immunol. 1999;93(3):190–7.CrossRefPubMedGoogle Scholar
  14. 14.
    Eley BS, Hughes EJ, Cooper M, Pienaar S, Shaboodien G, Henderson H, Beatty DW. Primary immunodeficiency diseases in Cape Town. Abstract: K2.Mon.1.21/1; 11th International Congress of Immunology. Stockholm, Sweden, July 2001.Google Scholar
  15. 15.
    Pienaar S, Eley BS, Hughes J, Henderson HE. X-linked hyper IgM (HIGM1) in an African kindred: the first report from South Africa. BMC Pediatr. 2003;3(12).Google Scholar
  16. 16.
    Pienaar S, Eley BS, Beatty DW, Henderson HE. X-linked agammaglobulinaemia and the underlying genetics in two kindreds. J Pediatr Child Health. 2000;36:453–6.CrossRefGoogle Scholar
  17. 17.
    CEREDIH -The French PID study group. The French national registry of primary immunodeficiency diseases. Clin Immunol. 2010;135:264–72.CrossRefGoogle Scholar
  18. 18.
    Statistics South Africa: mid-year population estimates 2010. www.statssa.gov.sa (2010). Accessed 16 August 2010.
  19. 19.
    Rezaei N, Aghamohammadi A, Moin M, Pourpak Z, Movahedi M, Gharagozlou M, et al. Frequency and clinical manifestation of patients with primary immunodeficiency disorders in Iran: update from the Iranian primary immunodeficiency registry. J Clin Immunol. 2006;26:519–32.CrossRefPubMedGoogle Scholar
  20. 20.
    Buckley RH, Schiff SE, Schiff RI, Markert L, Williams LW, Roberts JL, et al. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med. 1999;340(7):508–16.CrossRefPubMedGoogle Scholar
  21. 21.
    Antoine C, Müller S, Cant A, Cavazzana-Calvo M, Veys P, Vossen J, et al. Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968–99. Lancet. 2003;361(9357):553–60.CrossRefPubMedGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Reené Naidoo
    • 1
    • 3
  • Lisa Ungerer
    • 2
  • Margaret Cooper
    • 1
  • Sandra Pienaar
    • 1
  • Brian S. Eley
    • 1
  1. 1.Paediatric Infectious Diseases Unit, Red Cross War Memorial Children’s Hospital and the School of Child and Adolescent HealthUniversity of Cape TownCape TownSouth Africa
  2. 2.Department of PathologyRed Cross War Memorial Children’s Hospital, National Health Laboratory ServicesCape TownSouth Africa
  3. 3.Paediatric Infectious Diseases UnitRed Cross War Memorial Children’s HospitalCape TownSouth Africa

Personalised recommendations