/hyper-IgM syndrome type 1

hyper-IgM syndrome type 1

Rare Disease

MONDO:0010626

Also Known As

HIGM1HIGMX-1Hyper IgM SyndromesX-linked hyper-IgM syndromeXHIGMhyper-IgM syndrome due to CD40 ligand deficiencyhyper-IgM syndrome due to CD40L deficiencyhyper-IgM syndrome type 1hyper-IgM syndrome, X-linkedhyperimmunoglobulin M syndromeimmunodeficiency, X-linked, with hyper-IgM, X-linked recessiveCD40 ligand deficiencyHIGMIHISX-linked hyper IgM syndromeXHIMhyper IgM immunodeficiency, X-linkedhyper IgM syndromehyper IgM syndrome 1hyper-IgM immunodeficiency, X-linkedhyper-IgM syndromehyper-IgM syndrome 1immunodeficiency 3immunodeficiency with hyper IgM type 1immunodeficiency with hyper-IgM, 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.