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Letter
Severe combined immunodeficiency: newborn screening and the BCG vaccination
  1. Andrew R Gennery1,2,
  2. Austen Worth3
  1. 1 Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK
  2. 2 Paediatric Immunology + HSCT, Great North Children's Hospital, Newcastle upon Tyne, UK
  3. 3 Dept of Immunology and Gene Therapy, Great Ormond Street Hospital for Children, London, UK
  1. Correspondence to Professor Andrew R Gennery, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne NE1 7RU, UK; andrew.gennery{at}ncl.ac.uk

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Severe combined immunodeficiency (SCID) presents in infancy and, if untreated, is fatal by 12–18 months. Infants appear healthy at birth, but develop persistent infection, progressive pneumonitis and malabsorption-induced growth failure, due to enteric viral infection, often with persistent vaccine-strain rotavirus. Live vaccines are contraindicated, although most eligible infants receive BCG and rotavirus vaccine before receiving a SCID diagnosis. For most patients, haematopoietic cell transplantation (HCT) is the treatment of choice and curative. However, HCT mortality is significantly increased when infection or organ damage is present. In infection-free infants, survival1 and neurodevelopmental outcome2 are significantly better.

T-Lymphocyte receptor excision circles (TRECs), markers for naive T-lymphocyte development and absent in infants with SCID, can be measured on the 5-day …

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Footnotes

  • Contributors Both authors equally conceived and wrote the letter and agree on the final version.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; internally peer reviewed.