immunodeficiency with hyper IgM type 3

Term ID

DOID:0060023

Synonyms

• CD40 deficiency
• HIGM3
• hyper-IgM syndrome due to CD40 deficiency
• type 3 hyper-IgM immunodeficiency

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

References

• GARD:10579
• NCI:C176416
• OMIM:606843
• ORDO:101090
• UMLS_CUI:C1720957

Ontology

Human Disease   ( DOID:0060023 )