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Hyper-IgM syndrome type 1
rareThe 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.
- Identifiers
- MONDO:0010626 OMIM:308230Orphanet:101088
- Causal genes
- CD40LG
- Also known as
- HIGM · HIGM1 · hyper IgM immunodeficiency, X-linked · hyper IgM syndrome · hyper IgM syndrome 1
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