/hyper-IgM syndrome type 3

hyper-IgM syndrome type 3

Rare Disease

MONDO:0011735

Also Known As

CD40 hyper-IgM syndromeHIGM3hyper-IgM syndrome caused by mutation in CD40hyper-IgM syndrome due to CD40 deficiencyimmunodeficiency with hyper-IgM type 3type 3 hyper-IgM immunodeficiencyCD40 deficiencyhyper IgM syndrome 3hyper-IgM syndrome 3immunodeficiency with hyper IgM type 3immunodeficiency with hyper-IgM, 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.