Mathieu Fusaro, Aline Vincent, Martin Castelle, Jérémie Rosain, Benjamin Fournier, Maria Veiga-da-Cunha, Takfarinas Kentache, Jill Serre, Catherine Fallet-Bianco, Anne-Lise Delezoide, Laurent Renesme, Fanny Morice Picard, Eulalie Lasseaux, Nathalie Aladjidi, Nathalie Seta, Valérie Cormier-Daire, Emile van Schaftingen, Bénédicte Neven, Despina Moshous, Sophie Blesson, Capucine Picard
Phosphoglucomutase 3 (PGM3) deficiency is a rare congenital disorder of glycosylation. Most of patients with autosomal recessive hypomorphic mutations in PGM3 encoding for phosphoglucomutase 3 present with eczema, skin and lung infections, elevated serum IgE, as well as neurological and skeletal features. A few PGM3-deficient patients suffer from a more severe disease with nearly absent T cells and severe skeletal dysplasia. We performed targeted next-generation sequencing on two kindred to identify the underlying genetic etiology of a severe combined immunodeficiency with developmental defect...
February 3, 2021: Journal of Clinical Immunology