Review
Newborn screening for severe combined immunodeficiency: a primer for clinicians
Catherine M. Biggs, Elie Haddad, Thomas B. Issekutz, Chaim M. Roifman and Stuart E. Turvey
CMAJ December 18, 2017 189 (50) E1551-E1557; DOI: https://doi.org/10.1503/cmaj.170561
Catherine M. Biggs
Department of Pediatrics (Biggs, Turvey), British Columbia Children’s Hospital, University of British Columbia, Vancouver, BC; Departments of Pediatrics, and Microbiology, Infection and Immunology (Haddad), University of Montreal, CHU Sainte-Justine, Montréal, Que.; Department of Pediatrics (Issekutz), IWK Health Centre, Dalhousie University, Halifax, NS; Division of Immunology and Allergy (Roifman), Hospital for Sick Children; Department of Pediatrics (Roifman), University of Toronto, Toronto, Ont.
MDElie Haddad
Department of Pediatrics (Biggs, Turvey), British Columbia Children’s Hospital, University of British Columbia, Vancouver, BC; Departments of Pediatrics, and Microbiology, Infection and Immunology (Haddad), University of Montreal, CHU Sainte-Justine, Montréal, Que.; Department of Pediatrics (Issekutz), IWK Health Centre, Dalhousie University, Halifax, NS; Division of Immunology and Allergy (Roifman), Hospital for Sick Children; Department of Pediatrics (Roifman), University of Toronto, Toronto, Ont.
MD PhDThomas B. Issekutz
Department of Pediatrics (Biggs, Turvey), British Columbia Children’s Hospital, University of British Columbia, Vancouver, BC; Departments of Pediatrics, and Microbiology, Infection and Immunology (Haddad), University of Montreal, CHU Sainte-Justine, Montréal, Que.; Department of Pediatrics (Issekutz), IWK Health Centre, Dalhousie University, Halifax, NS; Division of Immunology and Allergy (Roifman), Hospital for Sick Children; Department of Pediatrics (Roifman), University of Toronto, Toronto, Ont.
MDChaim M. Roifman
Department of Pediatrics (Biggs, Turvey), British Columbia Children’s Hospital, University of British Columbia, Vancouver, BC; Departments of Pediatrics, and Microbiology, Infection and Immunology (Haddad), University of Montreal, CHU Sainte-Justine, Montréal, Que.; Department of Pediatrics (Issekutz), IWK Health Centre, Dalhousie University, Halifax, NS; Division of Immunology and Allergy (Roifman), Hospital for Sick Children; Department of Pediatrics (Roifman), University of Toronto, Toronto, Ont.
MDStuart E. Turvey
Department of Pediatrics (Biggs, Turvey), British Columbia Children’s Hospital, University of British Columbia, Vancouver, BC; Departments of Pediatrics, and Microbiology, Infection and Immunology (Haddad), University of Montreal, CHU Sainte-Justine, Montréal, Que.; Department of Pediatrics (Issekutz), IWK Health Centre, Dalhousie University, Halifax, NS; Division of Immunology and Allergy (Roifman), Hospital for Sick Children; Department of Pediatrics (Roifman), University of Toronto, Toronto, Ont.
MBBS DPhil
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Newborn screening for severe combined immunodeficiency: a primer for clinicians
Catherine M. Biggs, Elie Haddad, Thomas B. Issekutz, Chaim M. Roifman, Stuart E. Turvey
CMAJ Dec 2017, 189 (50) E1551-E1557; DOI: 10.1503/cmaj.170561
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- Article
- What is severe combined immunodeficiency?
- How is severe combined immunodeficiency diagnosed?
- Why is early diagnosis and treatment critical?
- What is the newborn screen and how well does it perform?
- Which other conditions may lead to an abnormal screen?
- Which forms of immunodeficiency are not identified by the newborn screen?
- What is the approach to a patient with an abnormal screen?
- What support should parents receive?
- Footnotes
- References
- Figures & Tables
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