title: Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter.
authors.affiliation: Department of Clinical Biochemistry and Immunology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom; Lymphocyte Signalling & Development, Babraham Institute, Cambridge, United Kingdom; Department of Medicine, University of Cambridge, Cambridge, United Kingdom. Electronic address: anita.chandra@doctors.org.uk.
authors.forename: Anita
authors.initials: A
authors.lastname: Chandra
authors.affiliation: Molecular and Cellular Immunology, Institute of Child Health, University College London, London, United Kingdom.
authors.forename: Fang
authors.initials: F
authors.lastname: Zhang
authors.affiliation: Department of Immunology, Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
authors.forename: Kimberly C
authors.initials: KC
authors.lastname: Gilmour
authors.affiliation: University College London Institute of Immunity and Transplantation, London, United Kingdom.
authors.forename: David
authors.initials: D
authors.lastname: Webster
authors.affiliation: University College London Genetics Institute, University College London, London, United Kingdom.
authors.forename: Vincent
authors.initials: V
authors.lastname: Plagnol
authors.affiliation: Department of Clinical Biochemistry and Immunology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.
authors.forename: Dinakantha S
authors.initials: DS
authors.lastname: Kumararatne
authors.affiliation: University College London Institute of Immunity and Transplantation, London, United Kingdom; Department of Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom.
authors.forename: Siobhan O
authors.initials: SO
authors.lastname: Burns
authors.affiliation: Department of Medicine, University of Cambridge, Cambridge, United Kingdom.
authors.forename: Sergey
authors.initials: S
authors.lastname: Nejentsev
authors.affiliation: Molecular and Cellular Immunology, Institute of Child Health, University College London, London, United Kingdom; Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.
authors.forename: Adrian J
authors.initials: AJ
authors.lastname: Thrasher
mesh_terms: D000328:Adult; D001665:Binding Sites; D002675:Child, Preschool; D017074:Common Variable Immunodeficiency / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D053631:Interleukin Receptor Common gamma Subunit / Q000235:genetics*; D007694:Killer Cells, Natural / Q000378:metabolism*; D008231:Lymphopenia / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D008297:Male; D009154:Mutation; D011401:Promoter Regions, Genetic; D011485:Protein Binding; D050783:Proto-Oncogene Proteins c-ets / Q000378:metabolism
chemical_list: D053631:Interleukin Receptor Common gamma Subunit; D050783:Proto-Oncogene Proteins c-ets