Hyper-IgM syndrome type 3
Hyper-IgM syndrome type 3
Definition
A form of Hyper IgM syndrome characterized by mutations of the CD40 gene. In this type, Immature B cells cannot receive signal 2 from helper T cells which is necessary to mature into mature B cells.
Also known as CD40 hyper-IgM syndrome, HIGM3, hyper-IgM syndrome caused by mutation in CD40, hyper-IgM syndrome due to CD40 deficiency, immunodeficiency with hyper-IgM type 3 — per MONDO