A novel mutation in the POLE2 gene causing combined immunodeficiency

F Frugoni, K Dobbs, K Felgentreff, H Aldhekri… - Journal of Allergy and …, 2016 - jacionline.org
To the Editor: Early lymphocyte development requires the orchestrated interplay of pathways
to maintain genomic integrity and accurate DNA repair during the proliferative bursts
associated with antigen receptor rearrangement. 1 Inborn errors in replication control or
DNA repair can lead to primary immunodeficiency. 2 We report the case of a patient with
combined immunodeficiency, facial dysmorphisms, and autoimmunity with a novel mutation
in the DNA polymerase epsilon subunit 2 (POLE2) gene. A, 5-year-old boy born to related …