Non-Bruton type autosomal dominant agammaglobulinemia

A 17-year-old girl with congenital agammaglobulinemia lacked B lymphocytes in peripheral blood and showed epicanthic folds, mild hypertelorism, high-arched palate, and lowered ears; no family member exhibited immunodeficiency. The absolute count of her peripheral lymphocytes was 3,300 per microliter, and the proportions of CD20-, CD2-, CD4-, and CD8-positive lymphocytes were 0.6%, 97.0%, 56.0%, and 34.7%.

Therapeutic options

  • (Intravenous) immunoglobulins and antibiotic therapy. Oral poliovaccine should not be given because of the risk of paralytic disease.
  • Hypogammaglobulinemia, eMedicine

Research programs, clinical trials