title: Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities.
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.
authors.affiliation: 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.
authors.forename: Stuart P
authors.initials: SP
authors.lastname: Adams
authors.affiliation: Haematology, Cellular and Molecular Diagnostic Service, Great Ormond Street Hospital for Children NHS Trust, London, UK.
authors.forename: Melanie
authors.initials: M
authors.lastname: Wilson
authors.affiliation: Haematology, Cellular and Molecular Diagnostic Service, Great Ormond Street Hospital for Children NHS Trust, London, UK.
authors.forename: Elissar
authors.initials: E
authors.lastname: Harb
authors.affiliation: Purine Research Laboratory, St Thomas Hospital, London, UK.
authors.forename: Lynette
authors.initials: L
authors.lastname: Fairbanks
authors.affiliation: Immunology and Bone Marrow Transplant Units, Great Ormond Street Hospital for Children, London NHS Trust, UK.
authors.forename: Jinhua
authors.initials: J
authors.lastname: Xu-Bayford
authors.affiliation: Immunology and Bone Marrow Transplant Units, Great Ormond Street Hospital for Children, London NHS Trust, UK.
authors.forename: Lucie
authors.initials: L
authors.lastname: Brown
authors.affiliation: Haematology, Cellular and Molecular Diagnostic Service, Great Ormond Street Hospital for Children NHS Trust, London, UK.
authors.forename: Laura
authors.initials: L
authors.lastname: Kearney
authors.affiliation: National Institute of Immunohaematology, ICMR, K E M Hospital, Parel, Mumbai, India.
authors.forename: Manisha
authors.initials: M
authors.lastname: Madkaikar
authors.affiliation: 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.
authors.forename: H
authors.initials: H
authors.lastname: Bobby Gaspar
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency* / Q000235:genetics*; D000361:Agammaglobulinemia / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation / Q000235:genetics*; D012189:Retrospective Studies; D016511:Severe Combined Immunodeficiency / Q000235:genetics*; D006113:United Kingdom
chemical_list: D004247:DNA; D000243:Adenosine Deaminase
keywords: ADA; Adenosine deaminase; Mutation; SCID