Hyper-IgM syndrome type 1
Hyper-IgM syndrome type 1
Definition
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.
Also known as HIGM1, Hyper IgM Syndromes, hyper-IgM syndrome due to CD40 ligand deficiency, hyper-IgM syndrome due to CD40L deficiency, hyper-IgM syndrome type 1, hyper-IgM syndrome, X-linked, hyperimmunoglobulin M syndrome, immunodeficiency, X-linked, with hyper-IgM, X-linked recessive, X-linked hyper-IgM syndrome, XHIGM — per MONDO