(Q55783701)

English

combined immunodeficiency due to partial RAG1 deficiency

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

  • ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY
  • CID with expansion of gamma delta T cells
  • Combined immunodeficiency with expansion of gamma delta T cells
  • CID due to partial RAG1 deficiency
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