CD40 deficiency

HIGM3 is characterized by hypogammaglobulinemia with normal or elevated levels of IgM. The clinical features of HIGM3 are similar to those of X-linked HIGM1. Patients have susceptibility to bacterial and opportunistic infections, such as Pneumocystis Carinii. There is often neutropenia and thrombocytopenia. Also patients present autoimmune disease of all types. There will be a normal or high IgM, with low IgG and IgA. T-cell function may be normal or poor. The complications include lymphomas, opportunist pneumonias, autoimmune disease, aplastic anaemia, infection of biliary tree with Cryptosporidium leading to severe cholangitis and liver failure.

Therapeutic options

  • Intravenous gamma-globulin (IVIg) should be started early. Treatment of infections with antibiotics like amoxicilin, amoxicillin-clavulanic acid, and cefuroxime axetil. If there is a chronic pulmonary infection, acute severe pneumonia, or sepsis intravenous ceftriaxone may be required. All water should be boiled to be free of Cryptosporidium. Severe cases might benefit from bone marrow transplantation. Some successful transplants have been until now. For liver disease secondary to Cryptosporidium liver transplantation may be required.
  • Hypogamaglobulinemia, eMedicine
  • Combined B-cell and T-cell disorders, eMedicine