Cd40 Ligand Deficiency
Disease ID: disease_node_13310
Connections displayed (default: 10).
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| Dbxref | MIM:308230 |
|---|---|
| Subclassof | DOID_0080012, DOID_628 |
| Data Source | DOID |
| Synonyms | HIGMX-1, X-linked hyper-IgM syndrome |
| Doid Label | CD40 ligand deficiency |
| Doid 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. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_13310 |
| Doid Id | DOID_0060022 |
| Label | Cd40 Ligand Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Combined T Cell And B Cell Immunodeficiency(ID:disease_node_13297) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease)