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
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
Journal Article
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
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
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2014, Volume 133, Issue 2, pp. AB161 - AB161
Journal Article
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
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
Journal Article
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