AID deficiency

There is usually an early onset; the diagnosis should always be considered when Pneumocystis pneumonia is causing illness. Symptoms are similar to those in XHIM syndrome, with increased risk of neutropenia, thrombocytopenia, hemolytic anemia, and gastrointestinal and liver involvement. The clinical features associate a particular susceptibility to bacterial infections affecting essentially the upper respiratory tract and enlargement of secondary lymphoid organs. The complications include i.e: IgM lymphomas, opportunist pneumonias, autoimmune disease, and aplastic anaemia. There is a particular risk of Cryptosporidial infection of the biliary tree, leading to a severe cholangitis and liver failure.


Additional Information

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

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