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Metadata
ID	DOID:0060022
Name	CD40 ligand deficiency
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. https://www.ncbi.nlm.nih.gov/pubmed/30681380
Xrefs	MIM:308230
Synonyms	HIGMX-1 [EXACT] X-linked hyper-IgM syndrome [EXACT]
Parent Relationships	is_a combined T cell and B cell immunodeficiency is_a X-linked recessive disease