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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

OMIM: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

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