Common B-cell immune-deficiency syndromes

Question 1

What are common B-cell immune-deficiency syndromes?

Answer 1

• Bruton aggamaglobulinemia—X-linked defect in BTK=tyrosine kinase gene; no B-cells develop (so no primary follicles or germinal centers in lymph nodes); presents after 6 months old
• Selective/Isolated IgA deficiency—decrease in IgA production; increased risk of airway and GI infections (giardia), and autoimmune disease
• Common variable immunodeficiency syndrome—decreased plasma cells and decreased Ig, b/c decreased B-cell differentiation (presents after 2 years); increased risk of autoimmune disease + sinopulm infections + lymphoma