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- Title
Newborn screening for severe combined immunodeficiency: a primer for clinicians.
- Authors
Biggs, Catherine M.; Haddad, Elie; Issekutz, Thomas B.; Roifman, Chaim M.; Turvey, Stuart E.
- Abstract
The article focuses on newborn screening for severe combined immunodeficiency. It states that severe combined immunodeficiency is a medical emergency that can potentially be cured by hematopoietic stem cell transplantation or gene therapy, and mentions that outcomes for severe combined immunodeficiency are greatly improved by early diagnosis and treatment. It notes that newborn screen evaluates for T-cell lymphopenia using a T-cell receptor excision circle assay.
- Subjects
IMMUNODEFICIENCY; MEDICAL emergencies; STEM cell transplantation; T-cell lymphoma; LYMPHOPENIA
- Publication
Canadian Medical Association Journal (CMAJ), 2017, Vol 189, Issue 50, pE1551
- Publication type
journal article
- DOI
10.1503/cmaj.170561