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Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic features.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology - 1 Apr 2021

García-García Ana, Buendia Arellano Monserrat, Deyà-Martínez Àngela, Lozano Blasco Jaime, Serrano Mercedes, Van Den Rym Ana, García-Solis Blanca, Esteve-Solé Ana, Yiyi Luo, Vlagea Alexandru, Solanich Xavier, Fisher Megan R, Lyons Jonathan J, de Diego Rebeca Pérez, Alsina Laia

Abstract excerpt

BACKGROUND: Phosphoglucomutase-3 (PGM3) deficiency is a congenital disorder of glycosylation (CDG) with hyperimmunoglobulin IgE, atopy, and a variable immunological phenotype; most reported patients display dysmorphic features. The aim of the study was to characterize the genotype and phenotype of individuals with newly identified compound heterozygous variants in the phosphate-binding domain of PGM3 in order to...

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Dermatitis
Immunoglobulin E
Lymphopenia
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phosphoglucomutase

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PMID: 33098103
DOI: 10.1111/pai.13398

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