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Article

Molecular pathology of the X-linked hyper-immunoglobulin M syndrome: detection of wild-type transcripts in a patient with a complex splicing defect of the CD40 ligand.

Clinical and diagnostic laboratory immunology - 1 Nov 1996

Ameratunga R, McKee J, French J, Prestidge R, Fanslow W, Marbrook J

Abstract excerpt

The X-linked hyper-immunoglobulin M syndrome (XHIM) is a primary immune deficiency disorder characterized by an inability to produce immunoglobulin isotypes other than immunoglobulin M (IgM) and IgD. Recently, a B-cell surface antigen (CD40) and its conjugate T-cell counterstructure (CD40 ligand) were shown to mediate immunoglobulin isotype switching in the presence of cytokines such as interleukin 4. Most...

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Identifiers

PMID: 8914765
DOI: 10.1128/cdli.3.6.722-726.1996
PMCID: PMC170437

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Molecular pathology of the X-linked hyper-immunoglobulin M syndrome: detection of wild-type transcripts in a patient with a complex splicing defect of the CD40 ligand.PMID 8914765Read ↗

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