Selective deficiency in Ig class-switch recombination

Patients have recurrent bacterial infections from childhood and do not suffer from opportunistic infections. Lymphoid organ hyperplasia (spleen, liver, tonsil, lymph nodes) and autoimmune features, especially cytopenias.

Therapeutic options

  • (Intravenous) immunoglobulins started early to achieve residual IgG level>8g/l. This treatment leads to a decreased number of infections and diminishes or normalizes IgM levels. The lymphoid hyperplasia is not influenced by treatment. In case of enlarged lymphadenopathies there is need for surgical resection or biopsy.
  • Hypogamaglobulinemia, eMedicine

Research programs, clinical trials