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Hyper-IgM syndrome type 2
rareA hyper-IgM syndrome characterized by the absence of immunoglobulin class switch recombination, the lack of immunoglobulin somatic hypermutations, and lymph node hyperplasia caused by the presence of giant germinal centers.
- Identifiers
- MONDO:0011528 OMIM:605258Orphanet:101089
- Causal genes
- AICDA
- Also known as
- Activation-induced cytidine deaminase deficiency · AICDA hyper-IgM syndrome · aid deficiency · HIGM2 · hyper IgM syndrome 2
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