Diagnosis and treatment of NEMO

The most important step is recognising that there is a problem with the immune
system and involving the right specialists to investigate further and determine
treatment. The combination of skin and teeth abnormalities with severe infections can be very characteristic. Blood tests often show weak responses to vaccines and germs. They may also show signs of infection or autoimmune response. Genetic tests – also requiring a blood sample – will be needed to identify the mutation on the NEMO gene.

Treatment of NEMO

The immediate priority is to diagnose and treat infection. Many boys have severe problems with their immunity and require complex treatment from an immunology specialist, possibly in hospital at first. Most patients will need antibiotics as well as immunoglobulin replacement treatment in the long term to prevent infection, but this can often be given at home. You can read more about immunoglobulin therapy in our related leaflet www.piduk.org/static/media/up/Igguideforparents.pdf.

Live vaccines should not be given to children with NEMO deficiency as they may
be harmful. Regular monitoring and check-ups will help to catch infections early.
If an autoimmune response occurs, this can be treated with steroid and/or other
medicines to damp down the immune system, so relieving the symptoms. Skin
complaints, such as eczema, may need to be managed.

In some severely affected patients, NEMO deficiency may need treatment using stem cell transplantation (HSCT). This is a fairly new treatment for NEMO
deficiency, so its role is still being established. It is important to remember that a
bone marrow transplant will resolve the problems with the immune system, but not the skin, teeth and hair. Studies are ongoing to understand better what this means in the long term. Information on HSCT can be found here.

Future prospects for NEMO

The outlook for children with NEMO deficiency is variable. With regular monitoring and prompt treatment of infections, some children can grow up to lead a near-normal life. Others may be more severely affected, suffering repeated and serious infections that can be life-limiting.