Autoszomális recesszív
Caused by changes in both copies of the PNP gene, which makes an enzyme in purine recycling. Without it, waste molecules from broken-down DNA are not cleared away, and T cells are particularly affected.
Tünetek és jelek
Recurrent and severe infections, usually beginning in infancy or early childhood, from low numbers of T cells. Infections most often affect the sinuses and lungs. About two-thirds of people have neurological features such as developmental delay, intellectual disability, unsteadiness (ataxia) or spasticity. There is also an increased risk of autoimmune disorders.
Mit változtat a diagnózis
Treatment to restore immune function is needed, as without it children usually do not survive past childhood. Infections need prompt prevention and treatment. Parents of an affected child are usually both carriers, so genetic counselling and carrier testing can be offered.
Vizsgált gének
Más néven
immunodeficiency due to purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency
