Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities

Stuart P Adams; Melanie Wilson; Elissar Harb; Lynette Fairbanks; Jinhua Xu-Bayford; Lucie Brown; Laura Kearney; Manisha Madkaikar; H Bobby Gaspar

doi:10.1016/j.clim.2015.08.001

Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities

Clin Immunol. 2015 Dec;161(2):174-9. doi: 10.1016/j.clim.2015.08.001. Epub 2015 Aug 5.

Authors

Stuart P Adams¹, Melanie Wilson², Elissar Harb², Lynette Fairbanks³, Jinhua Xu-Bayford⁴, Lucie Brown⁴, Laura Kearney², Manisha Madkaikar⁵, H Bobby Gaspar⁶

Affiliations

¹ Haematology, Cellular and Molecular Diagnostic Service, Great Ormond Street Hospital for Children NHS Trust, London, UK; Molecular and Cellular Immunology, Institute of Child Health, University College London, UK. Electronic address: stuart.adams@gosh.nhs.uk.
² Haematology, Cellular and Molecular Diagnostic Service, Great Ormond Street Hospital for Children NHS Trust, London, UK.
³ Purine Research Laboratory, St Thomas Hospital, London, UK.
⁴ Immunology and Bone Marrow Transplant Units, Great Ormond Street Hospital for Children, London NHS Trust, UK.
⁵ National Institute of Immunohaematology, ICMR, K E M Hospital, Parel, Mumbai, India.
⁶ Molecular and Cellular Immunology, Institute of Child Health, University College London, UK; Immunology and Bone Marrow Transplant Units, Great Ormond Street Hospital for Children, London NHS Trust, UK.

PMID: 26255240
DOI: 10.1016/j.clim.2015.08.001

Abstract

Severe combined immunodeficiency (SCID) arises from a number of different genetic defects, one of the most common being mutations in the gene encoding adenosine deaminase (ADA). In the UK, ADA deficient SCID compromises approximately 20% of all known cases of SCID. We carried out a retrospective analysis of the ADA gene in 46 known ADA deficient SCID patients on whom DNA had been stored. Here, we report a high frequency of two previously reported mutations and provide a link between the mutations and patient ethnicity within our patient cohort. We also report on 9 novel mutations that have been previously unreported.

Keywords: ADA; Adenosine deaminase; Mutation; SCID.

MeSH terms

Adenosine Deaminase / deficiency*
Adenosine Deaminase / genetics*
Agammaglobulinemia / genetics*
DNA / genetics
Genotype
Humans
Infant
Infant, Newborn
Mutation / genetics*
Retrospective Studies
Severe Combined Immunodeficiency / genetics*
United Kingdom

Substances

DNA
Adenosine Deaminase

Supplementary concepts

Severe combined immunodeficiency due to adenosine deaminase deficiency