| Dataset | DisGeNET Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | 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. (Human Disease Ontology, DOID_0060022) |
| External Link | https://www.disgenet.org/browser/0/1/0/C2348037 |
| Similar Terms | |
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3 genes associated with the disease Cd40 Ligand Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
