About: CD40 ligand deficiency

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	X-linked recessive disease combined T cell and B cell immunodeficiency nodeID://b50938078
label	CD40 ligand deficiency
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0060022
database_cross_reference	OMIM:308230
has_exact_synonym	HIGMX-1 (en) X-linked hyper-IgM syndrome (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50938079

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