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Comparative Study
. 1993 Jan 21;361(6409):226-33.
doi: 10.1038/361226a0.

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

D Vetrie  1 , I Vorechovský, P Sideras, J Holland, A Davies, F Flinter, L Hammarström, C Kinnon, R Levinsky, M Bobrow, et al.
Affiliations
Comparative Study

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

D Vetrie et al. Nature. .

Erratum in

  • Nature 1993 Jul 22;364(6435):362

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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Comment in

  • Human genetics. Becoming B cells.
    Desiderio S. Desiderio S. Nature. 1993 Jan 21;361(6409):202-3. doi: 10.1038/361202a0. Nature. 1993. PMID: 7678697 No abstract available.
  • Loss of kinase activity.
    Bossemeyer D. Bossemeyer D. Nature. 1993 Jun 17;363(6430):590. doi: 10.1038/363590a0. Nature. 1993. PMID: 8510749 No abstract available.

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