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Combined immunodeficiency with granulomatosis

Disease definition

A rare, genetic, non-severe combined immunodeficiency disease characterized by immunodeficiency (manifested by recurrent and/or severe bacterial and viral infections), destructive noninfectious granulomas involving skin, mucosa and internal organs, and various autoimmune manifestations (including cytopenias, vitiligo, psoriasis, myasthenia gravis, enteropathy). Immunophenotypically, T-cell and B-cell lymphopenia, hypogammaglobulinemia, abnormal specific antibody production and impaired T-cell function are observed.

ORPHA:157949

Classification level: Disorder
  • Synonym(s):
    • CID due to RAG 1/2 deficiency
    • Combined immunodeficiency due to RAG 1/2 deficiency
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: D81.1
  • OMIM: 233650
  • UMLS: C2673536
  • MeSH: -
  • GARD: -
  • MedDRA: -
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