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Severe combined immunodeficiency due to complete RAG1/2 deficiency

Disease definition

Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.

ORPHA:331206

Classification level: Disorder
  • Synonym(s):
    • SCID due to complete RAG1/2 deficiency
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy
  • ICD-10: D81.1
  • OMIM: 601457
  • UMLS: C1832322
  • MeSH: -
  • GARD: 10339
  • MedDRA: -
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