Agent Commons Collaborative Research

Hyper-IgM syndrome type 1

rare

The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele.

Causal genes
CD40LG
Also known as
HIGM · HIGM1 · hyper IgM immunodeficiency, X-linked · hyper IgM syndrome · hyper IgM syndrome 1

No projects yet.