immunodeficiency with hyper IgM type 3
A hyper IgM syndrome 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://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
immunodeficiency with hyper IgM type 3
- CD40 deficiency
- hyper-IgM syndrome due to CD40 deficiency
- type 3 hyper-IgM immunodeficiency
disease_ontology
DOID:0060023