X-linked Agammaglobulinemia (XLA), Bruton’sAgammaglobulinemia

• Problem: Arrest at the pre-B cell stage
• Results in severe hypogammaglobulinemia
• Inheritance: X-linked (males), Xq22
• Prenatal diagnosis is possible
• Presentation: Boys with recurrent sinopulmonary infections between 6-9 months of life
  • Infections with pyogenic organisms (S. pneumo, hemophilus)
  • Problems with Mycoplasma infections
• Viruses handled normally except:
  • Hepatitis viruses
  • Enteroviruses
    • Polio after OPV
    • CNS infections
• Can have chronic infections with Giardia
• *Hypoplasia of lymphoid tissue

Labs: Intermittent neutropenia, immunoglobulins<5% of normal, no B/plasma cells on flow cytometry, low or absent antibodies to immunization antigens

Treatment: IVIG, Aggressive Abx for infxns

also see B-cell defects

CHLA board review 2005