Severe combined immunodeficiency (SCID) in Canadian children: A national surveillance study

Journal of Clinical Immunology

Volumn 33, Issue 8, 2013, Pages 1310-1316

  Rozmus, Jacob ^a   Junker, Anne ^a   Thibodeau, Melanie Laffin ^b   Grenier, Danielle ^b   Turvey, Stuart E ^a   Yacoub, Wadieh ^c   Embree, Joanne ^d   Haddad, Elie ^e   Langley, Joanne M ^f   Ramsingh, Rose Marie ^g   Singh, Veeran Anne ^c   Long, Richard ^h   Schultz, Kirk R ^a,i  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^b Canadian Cardiovascular Society   (Canada)

^c HEALTH CANADA   (Canada)

^d UNIVERSITY OF MANITOBA   (Canada)

^e UNIVERSITY OF MONTREAL   (Canada)

^f DALHOUSIE UNIVERSITY   (Canada)

^g Porcupine Health Unit   (Canada)

^h UNIVERSITY OF ALBERTA   (Canada)

ⁱ UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

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

Indexed keywords

ARTICLE; CANADIAN; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE SURVEILLANCE; ETHNIC GROUP; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; INCIDENCE; INFANT; LYMPHOCYTE COUNT; MORTALITY; NONHUMAN; OUTCOME ASSESSMENT; POPULATION SIZE; PRESCHOOL CHILD; PRIORITY JOURNAL; RISK ASSESSMENT; RISK FACTOR; SEVERE COMBINED IMMUNODEFICIENCY; SYNDROME DELINEATION;

BCG VACCINE; CANADA; CHILD, PRESCHOOL; COHORT STUDIES; DIAGNOSIS, DIFFERENTIAL; GENETIC THERAPY; HUMANS; INCIDENCE; INFANT; SEVERE COMBINED IMMUNODEFICIENCY; TREATMENT OUTCOME;

EID: 84889064521     PISSN: 02719142     EISSN: 15732592     Source Type: Journal    
DOI: 10.1007/s10875-013-9952-8     Document Type: Article

References (21)

1. Sponzilli I, Notarangelo LD. Severe combined immunodeficiency (SCID): from molecular basis to clinical management. Acta Biomed. 2011;82(1):5-13.
2. Deeks SL, Clark M, Scheifele DW, et al. Serious adverse events associated with bacille Calmette-Guérin vaccine in Canada. Pediatr Infect Dis J. 2005;24(6):538-41.
3. Dawar M, Clark M, Deeks SL, et al. A fresh look at an old vaccine: does BCG have a role in 21st century Canada? Int J Circumpolar Health. 2004;63 Suppl 2:230-6.
4. Ugnat AM, Grenier D, Thibodeau ML, et al. The Canadian paediatric surveillance program: celebrating 15 years of successful paediatric surveillance. Paediatr Child Health. 2011;16(4):203-5.
5. http://www.cpsp.cps.ca/uploads/studies/severe-combined-immunodeficiency- questionnaire.pdf. Accessed 10 July 2013.
6. Conley M, Notarangelo L, Etzioni A, Representing PAGID, Pan-American Group for Immunodeficiency, and ESID, European Society for Immunodeficiencies. Diagnostic criteria for primary immunodeficiencies. Clin Immunol. 1999;93(3):190-7.
7. Al-Herz W, Bousfiha A, Casanova JL, et al. Primary immunodeficiency diseases: an update on the classification form the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2011;2:54. doi: 10.3389/fimmu.2011.00054. Epub 2011 Nov 8.
8. Statistics Canada. Table 102-4509 - Live births, by birth weight and sex, Canada, provinces and territories, annual, CANSIM (database)
9. Statistics Canada. Aboriginal identity population by age groups, median age and sex, 2006 counts for both sexes, for Canada, provinces and territories - 20 % sample data (table). 2006. http://www12.statcan.ca/census-recensement/ 2006/dp-pd/hlt/97-558/pages/page.cfm?Lang=E&Geo=PR&Code=01&Table= 1&Data=Count&Sex=1&Age=2&StartRec=1&EndRec=13&Sort= 2&Display=All&CSDFilter=250 (accessed September 24, 2013).
10. Adeli MM, Buckley RH. Why newborn screening for severe combined immunodeficiency is essential: a case report. Pediatrics. 2010;126(2):e465-9.
11. Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol. 2005;115(2):391-8.
12. Stephan JL, Vlekova V, Le Deist F, et al. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J Pediatr. 1993;123(4):564-72.
13. Li L, Moshous D, Zhou Y, et al. A founder mutation in Artemis, an SNM1-like protein, causes SCID in Athabascan-speaking Native Americans. J Immunol. 2002;168(12):6323-9.
14. Phac-aspc.gc.ca. BCG Vaccine Usage in Canada - Current and Historical - Tuberculosis Prevention and Control - PHAC. 2012. [online] Available at: http://www.phac-aspc.gc.ca/tbpc-latb/bcgvac-1206-eng.php [Accessed: 7 Jan 2013].
15. Buckley RH, Schiff SE, Schiff RI, et al. Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. N Engl J Med. 1999;340(7):508-16.
16. Brown L, Xu-Bayford J, Allwood Z, et al. Neonatal diagnosis of severe combined immunodeficiency leads to significantly improved survival outcome: the case for newborn screening. Blood. 2011;117(11):3243-6.
17. Puck JM. Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles. J Allergy Clin Immunol. 2012;129(3):607-16.
18. Kwan A, Church JA, Cowan MJ, et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years. J Allergy Clin Immunol. 2013;132(1):140-50.
19. Chan K, Davis J, Pai SY, et al. A Markov model to analyze cost-effectiveness of screening for severe combined immunodeficiency (SCID). Mol Genet Metab. 2011;104(3):383-9.
20. Buckley RH, Schiff SE, Schiff RI, et al. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr. 1997;130(3):378-87.
21. Dvorak CC, Cowan MJ, Logan BR, et al. The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901. J Clin Immunol. 2013 Jul 2. [Epub ahead of print].