Severe Combined Immunodeficiency (SCID) in Canadian Children: A National Surveillance Study
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 unrecognize...
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ftpubmed:oai:pubmedcentral.nih.gov:7102302 2023-05-15T16:16:59+02:00 Severe Combined Immunodeficiency (SCID) in Canadian Children: A National Surveillance Study Rozmus, Jacob Junker, Anne Thibodeau, Melanie Laffin Grenier, Danielle Turvey, Stuart E. Yacoub, Wadieh Embree, Joanne Haddad, Elie Langley, Joanne M. Ramsingh, Rose Marie Singh, Veeran-Anne Long, Richard Schultz, Kirk R. 2013-10-12 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7102302/ http://www.ncbi.nlm.nih.gov/pubmed/24122030 https://doi.org/10.1007/s10875-013-9952-8 en eng Springer US http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7102302/ http://www.ncbi.nlm.nih.gov/pubmed/24122030 http://dx.doi.org/10.1007/s10875-013-9952-8 © Springer Science+Business Media New York 2013 This article is made available via the PMC Open Access Subset for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic. Original Research Text 2013 ftpubmed https://doi.org/10.1007/s10875-013-9952-8 2020-04-05T00:43:18Z 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. Text First Nations inuit PubMed Central (PMC) Calmette ENVELOPE(-67.150,-67.150,-68.050,-68.050) Canada Journal of Clinical Immunology 33 8 1310 1316 |
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Original Research |
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Original Research Rozmus, Jacob Junker, Anne Thibodeau, Melanie Laffin Grenier, Danielle Turvey, Stuart E. Yacoub, Wadieh Embree, Joanne Haddad, Elie Langley, Joanne M. Ramsingh, Rose Marie Singh, Veeran-Anne Long, Richard Schultz, Kirk R. Severe Combined Immunodeficiency (SCID) in Canadian Children: A National Surveillance Study |
topic_facet |
Original Research |
description |
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. |
format |
Text |
author |
Rozmus, Jacob Junker, Anne Thibodeau, Melanie Laffin Grenier, Danielle Turvey, Stuart E. Yacoub, Wadieh Embree, Joanne Haddad, Elie Langley, Joanne M. Ramsingh, Rose Marie Singh, Veeran-Anne Long, Richard Schultz, Kirk R. |
author_facet |
Rozmus, Jacob Junker, Anne Thibodeau, Melanie Laffin Grenier, Danielle Turvey, Stuart E. Yacoub, Wadieh Embree, Joanne Haddad, Elie Langley, Joanne M. Ramsingh, Rose Marie Singh, Veeran-Anne Long, Richard Schultz, Kirk R. |
author_sort |
Rozmus, Jacob |
title |
Severe Combined Immunodeficiency (SCID) in Canadian Children: A National Surveillance Study |
title_short |
Severe Combined Immunodeficiency (SCID) in Canadian Children: A National Surveillance Study |
title_full |
Severe Combined Immunodeficiency (SCID) in Canadian Children: A National Surveillance Study |
title_fullStr |
Severe Combined Immunodeficiency (SCID) in Canadian Children: A National Surveillance Study |
title_full_unstemmed |
Severe Combined Immunodeficiency (SCID) in Canadian Children: A National Surveillance Study |
title_sort |
severe combined immunodeficiency (scid) in canadian children: a national surveillance study |
publisher |
Springer US |
publishDate |
2013 |
url |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7102302/ http://www.ncbi.nlm.nih.gov/pubmed/24122030 https://doi.org/10.1007/s10875-013-9952-8 |
long_lat |
ENVELOPE(-67.150,-67.150,-68.050,-68.050) |
geographic |
Calmette Canada |
geographic_facet |
Calmette Canada |
genre |
First Nations inuit |
genre_facet |
First Nations inuit |
op_relation |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7102302/ http://www.ncbi.nlm.nih.gov/pubmed/24122030 http://dx.doi.org/10.1007/s10875-013-9952-8 |
op_rights |
© Springer Science+Business Media New York 2013 This article is made available via the PMC Open Access Subset for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic. |
op_doi |
https://doi.org/10.1007/s10875-013-9952-8 |
container_title |
Journal of Clinical Immunology |
container_volume |
33 |
container_issue |
8 |
container_start_page |
1310 |
op_container_end_page |
1316 |
_version_ |
1766002832330194944 |