Journal of Clinical Immunology

, Volume 33, Issue 8, pp 1310–1316

Severe Combined Immunodeficiency (SCID) in Canadian Children: A National Surveillance Study

  • Jacob Rozmus
  • Anne Junker
  • Melanie Laffin Thibodeau
  • Danielle Grenier
  • Stuart E. Turvey
  • Wadieh Yacoub
  • Joanne Embree
  • Elie Haddad
  • Joanne M. Langley
  • Rose Marie Ramsingh
  • Veeran-Anne Singh
  • Richard Long
  • Kirk R. Schultz
Original Research

DOI: 10.1007/s10875-013-9952-8

Cite this article as:
Rozmus, J., Junker, A., Thibodeau, M.L. et al. J Clin Immunol (2013) 33: 1310. doi:10.1007/s10875-013-9952-8

Abstract

Purpose

Severe Combined Immune Deficiency (SCID) is universally fatal unless treated with hematopoietic stem cell transplantation (HSCT). Following the identification of disseminated Bacille Calmette-Guérin (BCG) infections in Canadian First Nations, Métis and Inuit (FNMI) children with unrecognized primary immune deficiencies, a national surveillance study was initiated in order to determine the incidence, diagnosis, treatment and outcome of children with SCID in Canada.

Methods

Canadian pediatricians were asked to complete a monthly reporting form if they had seen a suspected SCID case, from 2004 to 2010, through the Canadian Paediatric Surveillance Program (CPSP). If the case met CPSP SCID criteria, more detailed data, including demographics and clinical information about investigations, treatment and outcome was collected.

Results

A total of 40 cases of SCID were confirmed for an estimated incidence of SCID in non-FNMI Canadian children of 1.4 per 100,000 live births (95 % CI 1 to 1.9/100,000). The proportion of SCID cases that were FNMI (17.5 %) was almost three times higher than was expected on the basis of proportion of the pediatric population estimated to be FNMI (6.3 %) resulting in an estimated incidence of 4.4 per 100,000 live births (95 % CI 2.1 to 9.2/100,000) in FNMI Canadian children. The mean age at diagnosis for all SCID cases was 4.2 months (range 1–583 days). There were 12 deaths (30 %; 95 % CI 18–46 %); seven died of confirmed or suspected infections before they could receive an HSCT.

Conclusions

The frequency of SCID cases in FNMI children is higher than in the general Canadian pediatric population. The high mortality rate, due primarily to infection, suggests that early diagnosis by newborn screening followed by HSCT could significantly benefit children with SCID.

Keywords

Severe combined immunodeficiency Newborn screening First nations and Inuit population Canadian paediatric surveillance program 

Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Jacob Rozmus
    • 1
  • Anne Junker
    • 2
  • Melanie Laffin Thibodeau
    • 3
  • Danielle Grenier
    • 3
  • Stuart E. Turvey
    • 2
  • Wadieh Yacoub
    • 4
  • Joanne Embree
    • 5
  • Elie Haddad
    • 6
  • Joanne M. Langley
    • 7
  • Rose Marie Ramsingh
    • 8
  • Veeran-Anne Singh
    • 9
  • Richard Long
    • 10
  • Kirk R. Schultz
    • 1
    • 11
  1. 1.Division of Hematology and Oncology, Department of Pediatrics, Child & Family Research InstituteUniversity of British ColumbiaVancouverCanada
  2. 2.Division of Infectious and Immunological Diseases, Department of Pediatrics, Child & Family Research InstituteUniversity of British ColumbiaVancouverCanada
  3. 3.Canadian Pediatric SocietyOttawaCanada
  4. 4.First Nations and Inuit Health BranchHealth CanadaOttawaCanada
  5. 5.Department of Pediatrics & Child Health and Department of Medical Microbiology and Infectious DiseasesUniversity of ManitobaWinnipegCanada
  6. 6.Research Center of CHU Sainte-Justine, Department of Pediatrics, Department of Microbiology and ImmunologyUniversité de MontréalMontrealCanada
  7. 7.Canadian Center for Vaccinology, Department of Pediatrics and Department of Community Health and EpidemiologyDalhousie UniversityHalifaxCanada
  8. 8.Porcupine Health UnitTimminsCanada
  9. 9.Health Information, Analysis and Research DivisionHealth CanadaOttawaCanada
  10. 10.Department of MedicineUniversity of AlbertaEdmontonCanada
  11. 11.Division of Hematology, Oncology & Bone Marrow Transplantation, Department of PediatricsUniversity of British ColumbiaVancouverCanada

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