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CD40 ligand deficiency
Summary
- Synonym
-
- 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.
- Super Class
- X-linked recessive disease combined T cell and B cell immunodeficiency
External Links
- Disease Ontology
- DOID:0060022
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 1116 | CHI3L1 | chitinase 3 like 1 | |
| 2208 | FCER2 | Fc epsilon receptor II | |
| 3251 | HPRT1 | hypoxanthine phosphoribosyltransferase 1 | |
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 7374 | UNG | uracil DNA glycosylase | |
| 8809 | IL18R1 | interleukin 18 receptor 1 |
Related Glycoprotein
