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 )

Relationships
is a type of: combined T cell and B cell immunodeficiency X-linked recessive disease