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Bruton type agammaglobulinemia
Etiology:
- absence or mutation in gene for Bruton's tyrosine kinase essential for maturation of B-lymphocytes
Epidemiology:
1) generally diagnosed in infancy or early childhood
2) affected patients generally reach adulthood
3) since it is X-linked, occurs only in males
Pathology:
1) affected infants are protected by maternal immunoglobulin until about 9-12 months of age
2) rhinitis, bronchitis, pneumonia & otitis media are common
3) bronchiectasis (10%)
4) bacterial infections: (common pathogens)
a) Haemophilus influenza
b) Staphylococcus aureus
c) Streptococcus pneumonia
5) sepsis or meningitis may occur resulting in death in a few hours
Laboratory:
1) absence of B-lymphocytes in peripheral blood
2) serum protein electrophoresis shows hypogammaglobulinemia
3) restriction fragment length polymorphism (RFLP) of DNA from B lympohcytes of female family members allows identification of females who carry the genetic defect
Management:
1) family members should not receive live poliovaccine
2) intravenous gamma globulin
General
agammaglobulinemia
X-linked disease
Database Correlations
OMIM 300300
MORBIDMAP 300300
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