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

D Vetrie, I Vořechovskı, P Sideras, J Holland, A Davies… - Nature, 1993 - nature.com
D Vetrie, I Vořechovskı, P Sideras, J Holland, A Davies, F Flinter, L Hammarström, C Kinnon…
Nature, 1993nature.com
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.
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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