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X-linked agammaglobulinemia

Disease definition

X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

ORPHA:47

  • Synonym(s):
    • BTK-deficiency
    • Bruton type agammaglobulinemia
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: X-linked recessive or Not applicable 
  • Age of onset: Childhood
  • ICD-10: D80.0
  • OMIM: 300310  300755
  • UMLS: C0221026
  • MeSH: C537409
  • GARD: 1033
  • MedDRA: 10060360

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