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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.

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Learn more about combined immune deficiencies.

This page contains general medical and/or legal information that cannot be applied safely to any individual case. Medical and/or legal knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical and/or legal advice.

Adapted from the IDF Patient & Family Handbook for Primary Immunodeficiency Diseases, Sixth Edition 
Copyright ©2019 by Immune Deficiency Foundation, USA