Combined immunodeficiency due to partial RAG1 deficiency
Combined immunodeficiency due to partial RAG1 deficiency
Definition
A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.
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 — per MONDO