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abridged index medicus (3) 3
allergy and immunology (3) 3
index medicus (3) 3
mutation (3) 3
allergy (2) 2
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1. Full Text Autosomal recessive phosphoglucomutase 3 ( PGM3 ) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment
by Zhang, Yu, PhD and Yu, Xiaomin, PhD and Ichikawa, Mie, BSc and Lyons, Jonathan J., MD and Datta, Shrimati, PhD and Lamborn, Ian T., BSc and Jing, Huie, PhD and Kim, Emily S., BSc and Biancalana, Matthew, BSc and Wolfe, Lynne A., CRNP and DiMaggio, Thomas, ADN and Matthews, Helen F., BSN and Kranick, Sarah M., MD and Stone, Kelly D., MD, PhD and Holland, Steven M., MD and Reich, Daniel S., MD, PhD and Hughes, Jason D., PhD and Mehmet, Huseyin, PhD and McElwee, Joshua, PhD and Freeman, Alexandra F., MD and Freeze, Hudson H., PhD and Su, Helen C., MD, PhD and Milner, Joshua D., MD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 133, Issue 5, pp. 1400 - 1409.e5
Background Identifying genetic syndromes that lead to significant atopic disease can open new pathways for investigation and intervention in allergy. Objective... 
Allergy and Immunology | immune deficiency | autoimmunity | phosphoglucomutase 3 | glycosylation | allergy | hyper-IgE | neurocognitive impairment | Atopy | STAT3 MUTATIONS | DOCK8 | NUCLEOTIDE SUGARS | HEALTHY | IMMUNOLOGY | O-GLCNACYLATION | CONGENITAL DISORDERS | Common Variable Immunodeficiency - immunology | CD8-Positive T-Lymphocytes - pathology | Hypersensitivity - enzymology | Humans | Genetic Diseases, Inborn - genetics | Child, Preschool | Hypersensitivity - immunology | Male | Th2 Cells - immunology | Genetic Diseases, Inborn - pathology | Common Variable Immunodeficiency - enzymology | Autoimmune Diseases - genetics | Young Adult | Immunoglobulin E - immunology | Immunoglobulin E - genetics | Female | Hypersensitivity - genetics | B-Lymphocytes - pathology | Cognition Disorders - immunology | Autoimmune Diseases - pathology | Child | Th2 Cells - pathology | Phosphoglucomutase - metabolism | Th17 Cells - pathology | Cognition Disorders - enzymology | B-Lymphocytes - enzymology | Th17 Cells - enzymology | Autoimmune Diseases - enzymology | Autoimmune Diseases - immunology | Cognition Disorders - pathology | Common Variable Immunodeficiency - pathology | Genetic Diseases, Inborn - immunology | Common Variable Immunodeficiency - genetics | Cognition Disorders - genetics | CD8-Positive T-Lymphocytes - enzymology | B-Lymphocytes - immunology | Hypersensitivity - pathology | Pedigree | Genetic Diseases, Inborn - enzymology | Th17 Cells - immunology | Family | Phosphoglucomutase - immunology | Mutation | CD8-Positive T-Lymphocytes - immunology | Th2 Cells - enzymology | Phosphoglucomutase - genetics | Autoimmunity | Nervous system diseases | Genomics | Immunodeficiency | Genetic research | Disease susceptibility | Genetic aspects | Food allergies | Enzymes | Nuclear magnetic resonance--NMR | Disease | Infections | Dermatitis | Patients | Allergies | Asthma | Defects | Proteins | Lasers | Spectrum analysis | Viral infections
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2. Full Text Detection of phosphoglucomutase-3 deficiency by lectin-based flow cytometry
by Carlson, Ryan J., BS and Bond, Michelle R., PhD and Hutchins, Shermaine, BS and Brown, Yishai and Wolfe, Lynne A., CRNP and Lam, Christina, MD and Nelson, Celeste, CRNP and DiMaggio, Thomas, ADN and Jones, Nina, RN, BSN and Rosenzweig, Sergio D., MD, PhD and Stone, Kelly D., MD, PhD and Freeman, Alexandra F., MD and Holland, Steven M., MD and Hanover, John A., PhD and Milner, Joshua D., MD and Lyons, Jonathan J., MD
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017, Volume 140, Issue 1, pp. 291 - 294.e4
N-glycan complexity has been shown to have dramatic effects on T-cell function including altering the activation threshold of the T-cell receptor (TCR) and... 
Allergy and Immunology | GLYCOSYLATION | MUTATIONS | IMMUNOLOGY | ALLERGY | AUTOIMMUNITY | Allergy | Medical research | Social service | Genomics | Lectins | Medicine, Experimental | Kidney diseases | Allergic reaction | Flow cytometry | Severe combined immunodeficiency | Laboratories | Stem cell transplantation | Immunoglobulin E | Transplantation | Lymphocytes T | Serum proteins | Dermatitis | Defects | Proteins | T-cell receptor | Genotype & phenotype | CTLA-4 protein | Lymphocytes | Atopic dermatitis | Food hypersensitivity | Food allergies | Congenital diseases | Leukocytes (eosinophilic) | Glycosylation | Morbidity | Glycan | Asthma | Hemopoiesis | Phosphoglucomutase | Cytometry | Mutation | Eosinophils | PGM3 | PHA | hyper-IgE | lectin | CDG
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3. Full Text Impaired Glycosylation Due To Autosomal Recessive PGM3 Mutations Results In Atopy, Immune Deficiency, Autoimmunity, and Neurocognitive Impairment
by Milner, Joshua D., Dr and Lyons, Jonathan J., Dr and Zhang, Yu, Dr and Yu, Xiaomin, Dr and Datta, Shrimati, Dr and Lamborn, Ian T., BSc and Biancalana, Matthew R., BSc and Wolfe, Lynne A., CRNP and DiMaggio, Thomas, BSN and Matthews, Helen F., BSN and Kranick, Sarah M., Dr and Stone, Kelly D., Dr and Holland, Steven M., Dr and Reich, Daniel S., Dr and Hughes, Jason D., Dr and Mehmet, Huseyin, Dr and McElwee, Joshua, Dr and Freeze, Hudson H., Dr and Freeman, Alexandra F.F., Dr and Su, Helen C., Dr
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 133, Issue 2, pp. AB161 - AB161
Allergy and Immunology
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4. Full Text Infantile Cirrhosis, Growth Impairment, and Neurodevelopmental Anomalies Associated with Deficiency of PPP1R15B
by Mohammad, Saeed, MD and Wolfe, Lynne A., MS, CRNP and Stöbe, Petra, PhD and Biskup, Saskia, MD, PhD and Wainwright, Mark S., MD, PhD and Melin-Aldana, Hector, MD and Malladi, Padmini, MS and Muenke, Maximilian, MD and Gahl, William A., MD, PhD and Whitington, Peter F., MD
Journal of Pediatrics, The, ISSN 0022-3476, 2016, Volume 179, pp. 144 - 149.e2
Objective To assess the utility of whole-exome sequencing (WES) in a sibling pair with undetermined liver disease and describe the phenotype associated with... 
Pediatrics | translation initiation factor | infantile cirrhosis | whole exome | LEUKOENCEPHALOPATHY | APOPTOSIS | GENE | UNDIAGNOSED DISEASES | MUTATION | SEVERE VARIANT | PEDIATRICS | VANISHING WHITE-MATTER | SHORT STATURE | TRANSLATION | PROTEIN-SYNTHESIS | Phenotype | Protein Phosphatase 1 - deficiency | Humans | Protein Phosphatase 1 - genetics | Female | Infant | Neurodevelopmental Disorders - genetics | Mutation | Growth Disorders - genetics | Liver Cirrhosis - genetics | Sequence Analysis, DNA | Liver cirrhosis
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