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Human Disease

CD40 ligand deficiency

Term ID
DOID:0060022
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. https://www.ncbi.nlm.nih.gov/pubmed/30681380
References
Ontology
Human Disease   ( DOID:0060022 )
Relationships
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Genes Involved
Zebrafish Models