A Novel De Novo PGM3 Pathogenic Mutation Identified in an Infant Presenting with Abnormal TREC Assay and Severe Neutropenia

Abstract

Phosphoglucomutase 3 (PGM3) deficiency is an autosomal recessive congenital glycosylation disorder associated with a variable clinical phenotype including immunodeficiency, atopy and progressive bone marrow failure. We present an infant with compound heterozygous pathogenic PGM3 mutations, including a novel de novo variant, who initially presented with an abnormal T-cell receptor excision circles (TREC) assay on newborn screen.