Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic features.
Ana Garcia GarciaMonserrat Buendia ArellanoÀngela Deyà-MartínezJaime Lozano BlascoMercedes SerranoAna Van Den RymBlanca García-SolisAna Esteve-SoleLuo YiyiAlexandru VlageaXavier SolanichMegan R FisherJonathan J LyonsRebeca Pérez de DiegoLaia AlsinaPublished in: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology (2020)
Our analysis revealed that L-PHA binding is reduced in naïve-CD4+ cells, which is consistent with decreased residual PGM3 enzymatic activity. Other gene variants in the N-glycosylation pathway may modify patient phenotypes in PGM3 deficiency. This study expands the clinical criteria for when PGM3 deficiency should be considered among individuals with hyper-IgE.