Human genes for CD40 ligand deficiency
CD40 ligand deficiency [DOID:0060022]
A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE.
Synonyms: CD40 ligand deficiency, DOID:0060022, HIGMX-1, HIGMX1