Bruton type agammaglobulinemia

Etiology

• absence or mutation in gene for Bruton's tyrosine kinase essential for maturation of B-lymphocytes

Epidemiology

• generally diagnosed in infancy or early childhood
• affected patients generally reach adulthood
• since it is X-linked, occurs only in males

Pathology

• affected infants are protected by maternal immunoglobulin until about 9-12 months of age
• rhinitis, bronchitis, pneumonia & otitis media are common
• bronchiectasis (10%)
• bacterial infections: (common pathogens)
  • Haemophilus influenza
  • Staphylococcus aureus
  • Streptococcus pneumonia
• sepsis or meningitis may occur resulting in death in a few hours

Laboratory

• absence of B-lymphocytes in peripheral blood
• serum protein electrophoresis shows hypogammaglobulinemia
• restriction fragment length polymorphism (RFLP) of DNA from B lympohcytes of female family members allows identification of females who carry the genetic defect

Management

• family members should not receive live poliovaccine
• intravenous gamma globulin

More general terms

• agammaglobulinemia
• X-linked disease

Database

• OMIM: https://mirror.omim.org/entry/300300