X-linked (Bruton’s) agammaglobulinemia (XLA)

Elements of the case

• male patient becomes ill with repeated infections at 10 month of age. these infections usually require antibiotics

• presentation at 10 months because antibodies from mother are just about gone after several months (when <>

• positive family history of two maternal brothers dying of infections between the ages of one and two

• patient had about 10% or less of normal levels of IgG, A, and M

• WBC levels were in the normal range, including lymphocytes, but flow cytometry showed no B cells. note that lymphocytes may be in the normal range even if all B cells are missing

• T cell number and function were normal

• IV Ig treatment was successful (bone marrow transplant would have been another option)

Principles you need to understand

• B cell maturation

• function of antibodies

  • neutralization

  • complement fixation, phagocytosis, and lysis

• what organisms are most likely to infect, when are they going to infect, and why do they?

• genetics and family pattern of X-linked diseases

Category: Pathology Notes