PolE/PolE2 deficiency
Related genes: POLE, POLE2
Inheritance pattern: Autosomal recessive
DNA polymerase epsilon (PolE/PolE2) deficiency is inherited in an autosomal recessive manner. Affected individuals have a high predisposition for infections and decreased numbers of both T and B cells. Additionally, those with PolE deficiency may manifest autoimmune problems (including type I diabetes and thyroid disease), short stature, and livedo (reddish-blue discoloration) of the skin. It is thought this may also represent a cancer predisposition syndrome, as this variant has been described in adults with early-onset colon cancer.
