UNG deficiency

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, increased serum IgM concentrations, and profoundly decreased serum IgG and IgA concentrations.

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
  • Pure B-cell disorder, eMedicine