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Severe combined immunodeficiency due to adenosine deaminase deficiency

Disease definition

Severe combined immunodeficiency (SCID; see this term) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.

ORPHA:277

  • Synonym(s):
    • ADA deficiency
    • SCID due to adenosine deaminase deficiency
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D81.3
  • OMIM: 102700
  • UMLS: C0392607
  • MeSH: C531816
  • GARD: 5748
  • MedDRA: 10066367

Additional information

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