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The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

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A Corrigendum to this article was published on 22 July 1993

Abstract

X-linked agammaglobulinaemia (XLA) is a human immunodeficiency caused by failure of pre-B cells in the bone marrow to develop into circulating mature B cells. A novel gene has been isolated which maps to the XLA locus, is expressed in B cells, and shows mutations in families with the disorder. The gene is a member of the src family of proto-oncogenes which encode protein-tyrosine kinases. This is, to our knowledge, the first evidence that mutations in a src-related gene are involved in human genetic disease.

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Author notes

  1. David Vetrie and Igor Vořechovský: D.V. and I.V. contributed equally to this study.

Authors and Affiliations

  1. Division of Medical and Molecular Genetics, UMDS of Guy's and St Thomas's Hospitals, Guy's Tower, London, SE1 9RT, UK

    David Vetrie, Jill Holland, Angela Davies, Frances Flinter, Martin Bobrow & David R. Bentley

  2. Center for BioTechnology, Karolinska Institute, NOVUM, S-14157, Huddinge, Sweden

    Igor Vořechovský, Paschalis Sideras, Lennart Hammarström & C. I. Edvard Smith

  3. Unit for Applied Cell and Molecular Biology, Umeå University, S-901 87, Umeå, Sweden

    Paschalis Sideras

  4. Molecular Immunology Unit, Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK

    Christine Kinnon & Roland Levinsky

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  1. David Vetrie
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Vetrie, D., Vořechovský, I., Sideras, P. et al. The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature 361, 226–233 (1993). https://doi.org/10.1038/361226a0

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