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Severe combined immunodeficiency: Newborn screening and the BCG vaccination

Lookup NU author(s): Professor Andrew GenneryORCiD

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Abstract

© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.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.

Publication metadata

Author(s): Gennery AR, Worth A

Publication type: Review

Publication status: Published

Journal: Archives of Disease in Childhood

Year: 2022

Volume: 107

Issue: 10

Pages: 955-955

Print publication date: 01/10/2022

Online publication date: 16/08/2022

Acceptance date: 06/08/2022

ISSN (print): 0003-9888

ISSN (electronic): 1468-2044

Publisher: BMJ Publishing Group

URL: http://dx.doi.org/10.1136/archdischild-2022-324682

DOI: 10.1136/archdischild-2022-324682

PubMed id: 35973752

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