Severe Combined Immunodeficiency (SCID) in Canadian Children: A National Surveillance Study
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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.
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.
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.
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.
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- Severe Combined Immunodeficiency (SCID) in Canadian Children: A National Surveillance Study
Journal of Clinical Immunology
Volume 33, Issue 8 , pp 1310-1316
- Cover Date
- Print ISSN
- Online ISSN
- Springer US
- Additional Links
- Severe combined immunodeficiency
- Newborn screening
- First nations and Inuit population
- Canadian paediatric surveillance program
- Industry Sectors
- Author Affiliations
- 1. Division of Hematology and Oncology, Department of Pediatrics, Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada
- 2. Division of Infectious and Immunological Diseases, Department of Pediatrics, Child & Family Research Institute, University of British Columbia, Vancouver, BC, Canada
- 3. Canadian Pediatric Society, Ottawa, ON, Canada
- 4. First Nations and Inuit Health Branch, Health Canada, Ottawa, ON, Canada
- 5. Department of Pediatrics & Child Health and Department of Medical Microbiology and Infectious Diseases, University of Manitoba, Winnipeg, MB, Canada
- 6. Research Center of CHU Sainte-Justine, Department of Pediatrics, Department of Microbiology and Immunology, Université de Montréal, Montreal, QC, Canada
- 7. Canadian Center for Vaccinology, Department of Pediatrics and Department of Community Health and Epidemiology, Dalhousie University, Halifax, NS, Canada
- 8. Porcupine Health Unit, Timmins, ON, Canada
- 9. Health Information, Analysis and Research Division, Health Canada, Ottawa, ON, Canada
- 10. Department of Medicine, University of Alberta, Edmonton, AB, Canada
- 11. Division of Hematology, Oncology & Bone Marrow Transplantation, Department of Pediatrics, University of British Columbia, BC Children’s Hospital, 4480 Oak St, Vancouver, BC, V6H 3V4, Canada