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 (…)
Belkadi A, Pedergnana V, Cobat A, Itan Y, Vincent QB, Abhyankar A, Shang L, El Baghdadi J, Bousfiha A; Exome/Array Consortium, Alcais A, Boisson B, Casanova JL, Abel L.
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