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Hyper-IgM syndrome type 3
rareA 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.
- Identifiers
- MONDO:0011735 OMIM:606843Orphanet:101090
- Causal genes
- CD40
- Part of
- Hyper-IgM syndrome
- Also known as
- CD40 hyper-IgM syndrome · HIGM3 · hyper IgM syndrome 3 · hyper-IgM syndrome caused by mutation in CD40 · hyper-IgM syndrome due to CD40 deficiency
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