1. Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities
- Author
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Laura Kearney, H. Bobby Gaspar, Elissar Harb, Lynette D. Fairbanks, Melanie Wilson, Manisha Madkaikar, Lucie Brown, Stuart Adams, and Jinhua Xu-Bayford
- Subjects
Genotype ,Adenosine Deaminase ,Immunology ,Biology ,medicine.disease_cause ,Adenosine deaminase ,Agammaglobulinemia ,medicine ,Immunology and Allergy ,Missense mutation ,Humans ,Allele ,Retrospective Studies ,Severe combined immunodeficiency ,Mutation ,Infant, Newborn ,Infant ,Retrospective cohort study ,DNA ,medicine.disease ,United Kingdom ,Adenosine deaminase deficiency ,biology.protein ,Severe Combined Immunodeficiency - 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.
- Published
- 2015