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

• OMIM:308230

Ontology

Human Disease   ( DOID:0060022 )