Treatment of XLP1

As XLP is such a rare disease, treatment is usually coordinated by a specialist centre experienced in treating rare immune disorders. There are two specialist centres in the UK that treat children with XLP1 – Great Ormond Street Hospital in London, and the Great North Children’s Hospital in Newcastle. The aim is to give enough treatment to control the overactive lymphocytes without losing protection against infection, while avoiding other side effects.

Some people affected by XLP1 are more likely to develop infections than normal and may benefit from regular (prophylactic) antibiotics and immunoglobulin replacement. ‘Live’ vaccines should be avoided. In many cases, an inactive form of a vaccine is available.

If lymphoproliferation is severe, giving immunosuppressant medications to dampen down (suppress) the immune system may be helpful. These medications reduce the overreaction and lessen the risk of tissue damage. Suppressing the immune system often involves courses of corticosteroids and chemotherapy medicines, usually given into a vein (intravenously) in hospital. This treatment usually puts the condition into ‘remission’ but does not offer a cure. The only definite ‘cure’ for XLP at present is a haematopoietic stem cell transplant (HSCT), where the bone marrow is replaced with donated stem cells that do not contain the overactive immune cells.