Term Name: | CD40 ligand deficiency |
---|---|
Synonyms: | HIGMX-1, X-linked hyper-IgM syndrome |
Definition: | 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. |
Ontology: | Human Disease [DOID:0060022] ( DOID:0060022 ) |