GTR Home > Conditions/Phenotypes > X-linked agammaglobulinemia

Disease characteristics

Excerpted from the GeneReview: X-Linked Agammaglobulinemia
X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial infections in affected males in the first two years of life. Recurrent otitis is the most common infection prior to diagnosis. Conjunctivitis, sinopulmonary infections, diarrhea, and skin infections are also frequently seen. Approximately 60% of individuals with XLA are recognized as having immunodeficiency when they develop a severe, life-threatening infection such as pneumonia, empyema, meningitis, sepsis, cellulitis, or septic arthritis. S pneumoniae and H influenzae are the most common organisms found prior to diagnosis and may continue to cause sinusitis and otitis after diagnosis and the initiation of gammaglobulin therapy. The prognosis for individuals with XLA has improved markedly in the last 25 years as a result of earlier diagnosis, the development of preparations of gammaglobulin that allow normal concentrations of serum IgG to be achieved, and more liberal use of antibiotics.

Associated genes

  • Also known as: RP1-164F3.2, AGMX1, AT, ATK, BPK, IMD1, PSCTK1, XLA, BTK
    Summary: Bruton agammaglobulinemia tyrosine kinase

Clinical features

  • Neoplasm
  • Enteroviral hepatitis
  • Enteroviral dermatomyositis syndrome
  • Lymph node hypoplasia
  • Diarrhea
  • Recurrent urinary tract infections
  • Prostatitis
  • Epididymitis
  • Sinusitis
  • Hearing impairment
  • Otitis media
  • Conjunctivitis
  • Delayed speech and language development
  • Pyoderma
  • Meningitis
  • Cor pulmonale
  • Pneumonia
  • Encephalitis
  • Septic arthritis
  • Agammaglobulinemia
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