Signs and sypmtoms of NEMO

The first sign of NEMO deficiency is often a severe infection, such as meningitis or pneumonia, requiring hospital treatment and sometimes intensive care. Boys with NEMO deficiency are vulnerable to many types of germs because so many aspects of their immune system are impaired. The major culprits are bacteria
called Pneumococci, relatives of tuberculosis (TB) called atypical mycobacteria and a fungus called Pneumocystis, but viral infections may also be a problem.

As well as being unable to fight infections as well as usual, the immune system
may develop an ‘autoimmune response’ – that is, it starts to attack the body cells instead of foreign invaders, such as bacteria and viruses. If the autoimmune problems affects the guts it can cause diarrhoea and abdominal pain.

In NEMO deficiency, skin is usually very dry and thickened owing to of a lack of sweat glands. Hair is usually sparse. Teeth tend to have an unusual, round (conical) shape. This is called ectodermal dysplasia. Those affected may also develop multiple skin abscesses and a skin condition called molluscum
contagiosum. Some boys may have swollen arms or legs owing to fluid retention