Bruton type agammaglobulinemia
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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)
- 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
References
- ↑ Mayo Internal Medicine Board Review, 1998-99, Prakash UBS (ed) Lippincott-Raven, Philadelphia, 1998, pg 747
- ↑ Medical Knowledge Self Assessment Program (MKSAP) 11, American College of Physicians, Philadelphia 1998
- ↑ ARUP Consult: Bruton Agammaglobulinemia - X-Linked Agammaglobulinemia The Physician's Guide to Laboratory Test Selection & Interpretation https://www.arupconsult.com/content/agammaglobulinemia