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
Displaying all 10 entries
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024