Severe Combined Immunodeficiency SCID in Canadia

Authors: Jacob Rozmus Anne Junker Melanie Laffin Thibodeau Danielle Grenier Stuart E Turvey Wadieh Yacoub Joanne Embree Elie Haddad Joanne M Langley Rose Marie Ramsingh VeeranAnne Singh Richard Long Kirk R Schultz

Publish Date: 2013/10/12

Volume: 33, Issue: 8, Pages: 1310-1316

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Abstract

Severe Combined Immune Deficiency SCID is universally fatal unless treated with hematopoietic stem cell transplantation HSCT Following the identification of disseminated Bacille CalmetteGuérin 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 CanadaCanadian 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 collectedA total of 40 cases of SCID were confirmed for an estimated incidence of SCID in nonFNMI Canadian children of 14 per 100000 live births 95  CI 1 to 19/100000 The proportion of SCID cases that were FNMI 175  was almost three times higher than was expected on the basis of proportion of the pediatric population estimated to be FNMI 63  resulting in an estimated incidence of 44 per 100000 live births 95  CI 21 to 92/100000 in FNMI Canadian children The mean age at diagnosis for all SCID cases was 42 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 HSCTThe 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 SCIDWe would like to thank Ms Ruth Milner for her statistical support and Dr Louise Pelletier Dr Maura Ricketts Dr Marcus Lem and Dr Ezzat Farzad for their help in setting up the study Funding for this project was obtained from the Office of Community Medicine at FNIHB Health Canada

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