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Metadata
DOID DOID:0060023
Name CD40 deficiency
Definition A combined T cell and B cell immunodeficiency that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation.
http://bioinf.uta.fi/CD40base/
Synonyms

hyper-IgM syndrome due to CD40 deficiency [EXACT]

immunodeficiency with hyper-IgM type 3 [EXACT]

type 3 hyper-IgM immunodeficiency [EXACT]

Xrefs

OMIM:606843

ORDO:101090

Relationships

is_a combined T cell and B cell immunodeficiency

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