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Updated: Nov 4 2020

Bruton Agammaglobulinemia

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  • Snapshot
    • A 6-year-old boy presents to the hospital with a severe upper respiratory infection requiring hospitalization. Chart review reveals that he has presented multiple times to the emergency room and primary care physician’s office for a variety of infections, including otitis media, upper respiratory infections, pneumonia, and sinusitis. When detailing family history, it is found that his maternal uncle died of an infection as a child. Lab findings include decreased levels of IgG, IgM, and IgA.
  • Introduction
    • Primary humoral immunodeficiency characterized by decreased immunoglobulins
    • Genetics
      • X-linked recessive
        • seen in male children
    • Pathogenesis
      • defect in Bruton tyrosine kinase (BTK)
      • defective maturation of B-cells
        • impaired signaling from pre-B-cell receptor
        • ↓ B-cells
        • ↓ production of all classes of Ig
      • impaired antibody immune response
  • Presentation
    • Symptoms
      • recurrent infections
        • especially after 6 months old (↓ maternal IgG)
        • Streptococcus pneumoniae, Hemophilus influenzae, Streptoccocus pyogenes, and Pseudomonas
      • increased susceptibility to encapsulated bacteria and blood-borne viruses
        • due to opsonization defect
    • Physical exam
      • absent/scant lymphoid tissues (tonsils/lymph nodes)
  • Evaluation
    • Diagnosis based on family history, clinical history, and exam
    • Serologies
      • ↓ all classes of Ig
      • ↓ levels of B-cells
      • normal T-cells
    • Diagnosis confirmed with DNA, mRNA, or protein analysis showing mutation in BTK
  • Differential Diagnosis
    • Common variable immunodeficiency
    • Severe combined immunodeficiency
    • Transient hypogammaglobulinemia of infancy
  • Treatment
    • Antibiotics for infections
    • Regular IVIG infusions
  • Prognosis, Prevention, and Complications
    • Prognosis
      • normal prognosis with regular IVIG therapy and early detection
    • Prevention
      • screening in newborns
      • regular IVIG to prevent infections
    • Complications
      • small risk of malignancy
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