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| Term | CD40 ligand deficiency | ID (Ontology) | DOID:0060022 (Human Disease) |
| 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. | ||
| Also Known As | "HIGMX-1" ; "X-linked hyper-IgM syndrome" | ||
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X-linked monogenic disease |__X-linked recessive disease___________________ combined immunodeficiency | |__combined T cell and B cell immunodeficiency__| CD40 ligand deficiency |
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| Is a |
X-linked recessive disease combined T cell and B cell immunodeficiency |
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| MIM:308230 | |||