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GTR Home > Conditions/Phenotypes > Combined immunodeficiency due to partial RAG1 deficiency

Combined immunodeficiency due to partial RAG1 deficiency

Synonyms
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia. [from ORDO]

Available tests

31 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (31 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: RAG-1, RNF74, RAG1
    Summary: recombination activating 1

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