RESUMEN

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.

Asunto(s)

Adenosina Desaminasa/deficiencia , Adenosina Desaminasa/genética , Agammaglobulinemia/genética , Mutación/genética , Inmunodeficiencia Combinada Grave/genética , ADN/genética , Genotipo , Humanos , Lactante , Recién Nacido , Estudios Retrospectivos , Reino Unido