OBO ID: DOID:0060022 |
Term Name: | CD40 ligand deficiency | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0060022 ) |
OTHER CD40 ligand deficiency PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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