Treatment of XIAP deficiency

Diagnosis and treatment are usually coordinated by a specialist centre experienced in treating rare immune disorders. The initial aim is to dampen down (suppress) inflammation, when present. This may involve courses of corticosteroids, biologics (targeted antibody treatment) and other therapy, often given in hospital. If children need intensive therapy and monitoring, a semi-permanent line is often placed into a large vein in the neck, under anaesthetic, so that needles are no longer needed.

Inflammatory bowel disease will generally be treated with standard immuno-suppressant medicines, although symptoms do not always respond well. If there is evidence of infection, anti-EBV, antibiotics and other anti-infection medicines will be prescribed, and immunoglobulin replacement therapy is often needed.

Currently, haematopoietic stem cell transplant (HSCT) is the only curative treatment for XIAP deficiency. This is where a child’s bone marrow is replaced with stem cells from a healthy donor. However, HSCT in the context of XIAP deficiency has variable outcomes and the condition itself also varies markedly in severity. Therefore, the decision about whether to proceed with a transplant or not needs to be individualised, in discussions between the family and an experienced specialist team. More information on HSCT can be found here.