Common Variable Immunodeficiency, CVID

• AKA “acquired” hypogammaglobulinemia
• Problem: B-cells cannot become plasma cells
• Genetics: may be autosomal dominant with variable expressivity; may have a common genetic basis with selective IgAdeficiency
• Presentation: Recurrent sinopulmonary infections usually in older children (approx 10 yo)
  • Bacterial infections
  • Giardia infections common
  • Lymphoid tissue present (vs. XLA)
  • Splenomegaly in 25%
  • severe onychomycosis
• Associations:
  • GI symptoms/spruelikesyndrome/diarrhea/ malabsorption
  • Others: thymoma, alopecia areata, hemolytic anemia, gastric atrophy, pernicious anemia
  • High incidence of autoimmune diseases and malignancies
• May arise from IgA deficiency

Labs: Low immunoglobulins; normal number of circulating B lymphs on flow cytometry
Treatment: Antibotics, IVIG

CVID:

• Clinically similar to X-linked Agammaglobulinemia (XLA), Brutons Agammaglobulinemia
• Sex distribution approximately equal
• Age of onset tends to be later, Infections can be less severe
• Same bacterial pathogens and types of infections
• Except enterovirus meningoencephalitis rare in CVID

Also see B-cell defects

CHLA Board Review 2005