Article
Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities.
Clinical immunology (Orlando, Fla.) - 1 Dec 2015
Adams Stuart P, Wilson Melanie, Harb Elissar, Fairbanks Lynette, Xu-Bayford Jinhua, Brown Lucie, Kearney Laura, Madkaikar Manisha, Bobby Gaspar H
Abstract excerpt
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...
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