Orphanet: Autosomal agammaglobulinemia
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Autosomal agammaglobulinemia

Disease definition

Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

ORPHA:33110

  • Synonym(s):
    • Agammaglobulinemia, non-Bruton type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: D80.0
  • OMIM: 601495  612692  613500  613501  613502  613506  615214  616941
  • UMLS: C1832241
  • MeSH: -
  • GARD: 9640
  • MedDRA: -

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