A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations

Neonatal-onset T − B − NK + severe combined immunodeficiency and neutropenia caused by mutated phosphoglucomutase 3

(2016) Jens Magnus Bernth-Jensen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 ( PGM3 ) gene

(2015) Karin E. Lundin et al.   CLINICAL IMMUNOLOGY

PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia

(2014) Asbjørg Stray-Pedersen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

(2014) Yu Zhang et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels

(2014) Atfa Sassi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Transplantation Outcomes for Severe Combined Immunodeficiency, 2000–2009

(2014) Sung-Yun Pai et al.   NEW ENGLAND JOURNAL OF MEDICINE

Glycobiology of immune responses

(2012) Gabriel A. Rabinovich et al.   Annals of the New York Academy of Sciences