CD40 ligand deficiency

Summary

DOID:0060022 - CD40 ligand deficiency

Disease Ontology 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.

Synonyms: HIGMX-1, X-linked hyper-IgM syndrome,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: cd40lg

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010626 - hyper-IgM syndrome type 1

MONDO:0010626 - hyper-IgM syndrome type 1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): combined T cell and B cell immunodeficiency (is_a)