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Isolated agammaglobulinemia

Disease definition

Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.


Classification level: Disorder
  • Synonym(s):
    • Isolated hypogammaglobulinemia
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D80.0
  • ICD-11: 4A01.00
  • OMIM: 300310  300755  601495  612692  613500  613501  613502  613506  615214  616941
  • UMLS: C4707181
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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