Inborn errors of immunity in Canadian First Nations and Nunavut Inuit Children: the tip of the iceberg
Abstract Objectives Inborn errors of immunity (IEI) are a heterogeneous group of genetic diseases that impact normal immune development and function. Individual IEI are rare, but collectively, can represent an important health burden. Little is known about the types of IEI seen in Canadian First Nat...
Published in: | Paediatrics & Child Health |
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Oxford University Press (OUP)
2024
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Online Access: | http://dx.doi.org/10.1093/pch/pxae026 https://academic.oup.com/pch/advance-article-pdf/doi/10.1093/pch/pxae026/58230075/pxae026.pdf |
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croxfordunivpr:10.1093/pch/pxae026 2024-09-09T19:40:28+00:00 Inborn errors of immunity in Canadian First Nations and Nunavut Inuit Children: the tip of the iceberg Pham-Huy, Anne Murguia-Favela, Luis Rubin, Tamar Suresh, Sneha Wright, Nicola A M Derfalvi, Beata Sinha, Roona Bowes, Jennifer Cuvelier, Geoffrey D E Brager, Rae Fong, Andrea Grunebaum, Eyal Kim, Vy Haddad, Elie Decaluwe, Hélène Touzot, Fabien Alizadehfar, Reza Haynes, Alison 2024 http://dx.doi.org/10.1093/pch/pxae026 https://academic.oup.com/pch/advance-article-pdf/doi/10.1093/pch/pxae026/58230075/pxae026.pdf en eng Oxford University Press (OUP) https://creativecommons.org/licenses/by/4.0/ Paediatrics & Child Health ISSN 1205-7088 1918-1485 journal-article 2024 croxfordunivpr https://doi.org/10.1093/pch/pxae026 2024-08-12T04:24:34Z Abstract Objectives Inborn errors of immunity (IEI) are a heterogeneous group of genetic diseases that impact normal immune development and function. Individual IEI are rare, but collectively, can represent an important health burden. Little is known about the types of IEI seen in Canadian First Nations (FN) and Inuit populations. We sought to understand the spectrum of serious IEI in FN and Nunavut Inuit children, as a starting point for improving the awareness of these conditions in the community and for health care workers. Methods A questionnaire was distributed to participating Canadian pediatric tertiary-care centers. Providers were asked to report cases of confirmed or suspected severe immunodeficiencies seen in FN and Nunavut Inuit children. Results From 2004 to 2022, IEI were reported in 63 FN and 21 Inuit children by 4 pediatric hospitals across 3 Canadian provinces. The majority of cases were immunodeficiencies affecting cellular and humoral immunity (62% of cases in FN and 57% in Inuit children). IKBKB deficiency, adenosine-deaminase severe combined immune deficiency (SCID), and chronic granulomatous disease were the most common IEI. A wide variety of other IEI was reported, many of which would not be detected by current newborn screening for SCID and for which live-attenuated vaccines would have been contraindicated. Conclusions IEI occur in FN and Inuit children and may be underrecognized. Better understanding the prevalence of these conditions in specific communities could help inform public health policies including newborn screening and immunization programs and ultimately improve the health of FN and Inuit children in Canada. Article in Journal/Newspaper First Nations inuit Nunavut Oxford University Press Canada Nunavut Paediatrics & Child Health |
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Oxford University Press |
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croxfordunivpr |
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English |
description |
Abstract Objectives Inborn errors of immunity (IEI) are a heterogeneous group of genetic diseases that impact normal immune development and function. Individual IEI are rare, but collectively, can represent an important health burden. Little is known about the types of IEI seen in Canadian First Nations (FN) and Inuit populations. We sought to understand the spectrum of serious IEI in FN and Nunavut Inuit children, as a starting point for improving the awareness of these conditions in the community and for health care workers. Methods A questionnaire was distributed to participating Canadian pediatric tertiary-care centers. Providers were asked to report cases of confirmed or suspected severe immunodeficiencies seen in FN and Nunavut Inuit children. Results From 2004 to 2022, IEI were reported in 63 FN and 21 Inuit children by 4 pediatric hospitals across 3 Canadian provinces. The majority of cases were immunodeficiencies affecting cellular and humoral immunity (62% of cases in FN and 57% in Inuit children). IKBKB deficiency, adenosine-deaminase severe combined immune deficiency (SCID), and chronic granulomatous disease were the most common IEI. A wide variety of other IEI was reported, many of which would not be detected by current newborn screening for SCID and for which live-attenuated vaccines would have been contraindicated. Conclusions IEI occur in FN and Inuit children and may be underrecognized. Better understanding the prevalence of these conditions in specific communities could help inform public health policies including newborn screening and immunization programs and ultimately improve the health of FN and Inuit children in Canada. |
format |
Article in Journal/Newspaper |
author |
Pham-Huy, Anne Murguia-Favela, Luis Rubin, Tamar Suresh, Sneha Wright, Nicola A M Derfalvi, Beata Sinha, Roona Bowes, Jennifer Cuvelier, Geoffrey D E Brager, Rae Fong, Andrea Grunebaum, Eyal Kim, Vy Haddad, Elie Decaluwe, Hélène Touzot, Fabien Alizadehfar, Reza Haynes, Alison |
spellingShingle |
Pham-Huy, Anne Murguia-Favela, Luis Rubin, Tamar Suresh, Sneha Wright, Nicola A M Derfalvi, Beata Sinha, Roona Bowes, Jennifer Cuvelier, Geoffrey D E Brager, Rae Fong, Andrea Grunebaum, Eyal Kim, Vy Haddad, Elie Decaluwe, Hélène Touzot, Fabien Alizadehfar, Reza Haynes, Alison Inborn errors of immunity in Canadian First Nations and Nunavut Inuit Children: the tip of the iceberg |
author_facet |
Pham-Huy, Anne Murguia-Favela, Luis Rubin, Tamar Suresh, Sneha Wright, Nicola A M Derfalvi, Beata Sinha, Roona Bowes, Jennifer Cuvelier, Geoffrey D E Brager, Rae Fong, Andrea Grunebaum, Eyal Kim, Vy Haddad, Elie Decaluwe, Hélène Touzot, Fabien Alizadehfar, Reza Haynes, Alison |
author_sort |
Pham-Huy, Anne |
title |
Inborn errors of immunity in Canadian First Nations and Nunavut Inuit Children: the tip of the iceberg |
title_short |
Inborn errors of immunity in Canadian First Nations and Nunavut Inuit Children: the tip of the iceberg |
title_full |
Inborn errors of immunity in Canadian First Nations and Nunavut Inuit Children: the tip of the iceberg |
title_fullStr |
Inborn errors of immunity in Canadian First Nations and Nunavut Inuit Children: the tip of the iceberg |
title_full_unstemmed |
Inborn errors of immunity in Canadian First Nations and Nunavut Inuit Children: the tip of the iceberg |
title_sort |
inborn errors of immunity in canadian first nations and nunavut inuit children: the tip of the iceberg |
publisher |
Oxford University Press (OUP) |
publishDate |
2024 |
url |
http://dx.doi.org/10.1093/pch/pxae026 https://academic.oup.com/pch/advance-article-pdf/doi/10.1093/pch/pxae026/58230075/pxae026.pdf |
geographic |
Canada Nunavut |
geographic_facet |
Canada Nunavut |
genre |
First Nations inuit Nunavut |
genre_facet |
First Nations inuit Nunavut |
op_source |
Paediatrics & Child Health ISSN 1205-7088 1918-1485 |
op_rights |
https://creativecommons.org/licenses/by/4.0/ |
op_doi |
https://doi.org/10.1093/pch/pxae026 |
container_title |
Paediatrics & Child Health |
_version_ |
1809909767278166016 |