A 2-year-old boy has had almost continuous infections since he was 6 months old. These infections have included otitis media, pneumonia, and impetigo. Organisms cultured include Haemophilus influenzae, Streptococcus pneumoniae, and Staphylococcus aureus. He also has had diarrhea, with Giardia lamblia cysts identified in stool specimens. The family history indicates that an older brother with a similar condition died because of overwhelming infections. The boy's two sisters and both parents are not affected. Which of the following laboratory findings would most likely be seen in this boy?
This boy most likely has Bruton agammaglobulinemia, an X-linked primary immunodeficiency marked by recurrent bacterial infections that begin after maternal antibody levels diminish. Selective IgA deficiency is marked by a more benign course, with sinopulmonary infections and diarrhea that are not severe. Deficiency of complement C3 is rare; it leads to greater numbers of infections in children and young adults, but Giardia infections are not a feature of this disease. Lack of cell-mediated immunity is more likely to be seen in HIV infection in children. Although some patients with Bruton agammaglobulinemia can develop features of systemic lupus erythematosus, they generally do not have a positive test result for ANA.
Absence of IgA
Agammaglobulinemia
Decreased complement C3
High titer of HIV-1 RNA
Immunity