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Combined immunodeficiency due to partial RAG1 deficiency
rareA form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.
- Identifiers
- MONDO:0012359 OMIM:609889Orphanet:231154
- Causal genes
- RAG1
- Also known as
- CID due to partial RAG1 deficiency · CID with expansion of gamma delta T cells · combined immunodeficiency with expansion of gamma delta T cells
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