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Combined immunodeficiency due to partial RAG1 deficiency

Disease definition

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.

ORPHA:231154

Classification level: Disorder
  • Synonym(s):
    • CID due to partial RAG1 deficiency
    • CID with expansion of gamma delta T cells
    • Combined immunodeficiency with expansion of gamma delta T cells
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D81.8
  • OMIM: 609889
  • UMLS: C1835931
  • MeSH: -
  • GARD: -
  • MedDRA: -
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