The clinical features or TPP2 deficiency includes:
• Infection predisposition
o Recurrent upper and lower tract respiratory infections: infection of the ears, sinuses of the skull or lung.
o Severe viral infections
• Autoimmune disorder predisposition
o Low levels of blood cells
o A broad range of non-specific autoimmune diseases involving liver, skin, thyroid, blood vessels and brain.
• Mild to moderate developmental delay/intellectual deficiency
• Some behavior troubles such as hyperactivity and attention deficit