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Immunological Reviews, ISSN 0105-2896, 01/2019, Volume 287, Issue 1, pp. 135 - 144
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 133, Issue 5, pp. 1410 - 1419.e13
Background Recurrent bacterial and fungal infections, eczema, and increased serum IgE levels characterize patients with the hyper-IgE syndrome (HIES). Known... 
Allergy and Immunology | glycosylation | Hyper-IgE syndrome | signal transducer and activator of transcription 3 | phosphoglucomutase 3 | Staphylococcus aureus | dedicator of cytokinesis 8 | DESIGN | DOCK8 | STAT3 | IMMUNOLOGY | IDENTIFICATION | DEFICIENCY | PROBES | ALLERGY | CLONING | CONGENITAL DISORDERS | MUTASE | Job Syndrome - immunology | Cell Proliferation | Job Syndrome - genetics | T-Lymphocytes - enzymology | Humans | Genetic Diseases, Inborn - genetics | Immunoglobulin E | Infant | Male | Mutation, Missense | Job Syndrome - enzymology | Adult | Female | Child | Tunisia | Genetic Linkage | Phosphoglucomutase - metabolism | Genetic Diseases, Inborn - immunology | Glycosylation | Chromosomes, Human, Pair 6 - genetics | Homozygote | Chromosomes, Human, Pair 6 - metabolism | Genetic Diseases, Inborn - enzymology | T-Lymphocytes - immunology | Phosphoglucomutase - immunology | Immunity - genetics | Phosphoglucomutase - genetics | Amino Acid Substitution | Enzymes | Polysaccharides | Molecular genetics | Stem cells | Physiological aspects | Mycoses | Genetic aspects | Cellular signal transduction | Disease susceptibility | Genetic transcription | Proteins | Signal transduction | Cell growth | Polypeptides | Disease | Values | Mutation | Tetanus | Kinases | Chromosomes | T-Lymphocytes | Genetic Diseases, Inborn | Chromosomes, Human, Pair 6 | Immunity | Phosphoglucomutase | Life Sciences | Immunology | Job Syndrome | PGM3 | Basic Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Immunologi inom det medicinska området | Immunology in the medical area
Journal Article
Journal Article
Immunology and Cell Biology, ISSN 0818-9641, 04/2019, Volume 97, Issue 4, pp. 368 - 379
Journal Article
Journal Article
Journal Article
Journal Article
Clinical Immunology, ISSN 1521-6616, 2015, Volume 161, Issue 2, pp. 366 - 372
ABSTRACT Phosphoglucomutase 3 (PGM3) is an enzyme converting N-acetyl-glucosamine-6-phosphate to N-acetyl-glucosamine-1-phosphate, a precursor important for... 
Allergy and Immunology | Congenital defects of glycosylation | N-acetylglucosamine-phosphate mutase | hyper-IgE syndrome | CDG | Primary immunodeficiency | Hyper-IgE syndrome | DEFECTS | GLCNACYLATION | N-acetylglucosamine-phosphate mutase hyper-IgE syndrome | CONGENITAL DISORDERS | GLYCOSYLATION | IMMUNOLOGY | O-GLCNAC TRANSFERASE | Genetic Predisposition to Disease - genetics | Humans | Middle Aged | Cells, Cultured | Family Health | Male | Blotting, Western | Infection - genetics | DNA Mutational Analysis | Pedigree | Base Sequence | Fatal Outcome | Immunologic Deficiency Syndromes - genetics | Immunologic Deficiency Syndromes - metabolism | Adult | Female | Mutation | Phosphoglucomutase - genetics | Phosphoglucomutase - metabolism | Siblings | Phosphates | Enzymes | Genes | Immunoglobulin E | Disease susceptibility | Genetic aspects | Health aspects | Genetic disorders | Immunodeficiency | Genetic research | Birth defects | GlcNAc-6-P, N-acetyl-glucosamine-6-phosphate | EBV, Epstein Barr Virus | HIES, hyper-IgE syndrome | GlcNAc-1-P, N-acetyl-glucosamine-1-phosphate | UDP-GalNac, uridine diphosphate N-acetylglucosamine | PGM3, Phosphoglucomutase 3 | CDG, Congenital defects in glycosylation | Basic Medicine | Medical and Health Sciences | Microbiology in the medical area | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Mikrobiologi inom det medicinska området
Journal Article