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Metadata
ID DOID:0060023
Name immunodeficiency with hyper IgM type 3
Definition 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.
https://www.ncbi.nlm.nih.gov/pubmed/11675497
Xrefs

NCI:C84783

OMIM:606843

ORDO:101090

Synonyms

CD40 deficiency [EXACT]

hyper-IgM syndrome due to CD40 deficiency [EXACT]

type 3 hyper-IgM immunodeficiency [EXACT]

Parent Relationships

is_a hyper IgM syndrome

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