Signs and symptoms of XIAP deficiency

The hallmarks of XIAP deficiency are:

  • recurrent fevers, a rash and low blood count (haemophagocytic lymphohistiocytosis (HLH*), often triggered by the glandular fever virus (Epstein-Barr virus; EBV)
  • an enlarged spleen (splenomegaly)
  • inflammatory bowel disease, with symptoms of abdominal pain and diarrhoea, sometimes containing blood.

HLH is a serious condition where the body reacts inappropriately to a ‘trigger’.

Certain white blood cells (T-cells and macrophages) become over-activated and can cause severe inflammation and damage to tissues. Please refer to PID UK’s

information on HLH.

Other features in XIAP deficiency can include hypogammaglobulinaemia (low immunoglobulin level) and inflammation in other tissues, such as the joints (arthritis).