Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6087104 | Clinical Immunology | 2015 | 6 Pages |
â¢We retrospectively analysed 46 patient samples known to have ADA deficient SCID for ADA mutations.â¢We discovered 9 previously unreported mutations.â¢We categorised the phenotype-genotype correlations according to a previously described system.â¢We identified the most prevalent mutations in our UK cohort.â¢We linked specific mutations with ethnicity.
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.