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Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 138, Issue 1, pp. 210 - 218.e9
Background Activated phosphoinositide 3-kinase δ syndrome (APDS) 2 (p110δ-activating mutations causing senescent T cells, lymphadenopathy, and immunodeficiency... 
Allergy and Immunology | and immunodeficiency | p110δ-activating mutations causing senescent T cells | hyper-IgM | adenopathy | p110δ | activated phosphoinositide 3-kinase δ syndrome | p85α | antibody deficiency | immunodeficiency | lymphadenopathy | phosphoinositide 3-kinase | Primary immunodeficiency | Class I Phosphatidylinositol 3-Kinases/genetics | RNA Splice Sites | Gene Frequency | Humans | Middle Aged | Immunologic Deficiency Syndromes/diagnosis | Child, Preschool | Genotype | Male | Young Adult | CD8-Positive T-Lymphocytes/immunology | Phenotype | T-Lymphocyte Subsets/immunology | Biopsy | Adolescent | Alleles | Adult | Female | Mutation | Child | Cohort Studies | p110 delta-activating mutations causing senescent T cells | CELLS | HUMAN IMMUNODEFICIENCY | KINASE | p85 alpha | IMMUNOLOGY | p110 delta | ALLERGY | MUTATIONS | activated phosphoinositide 3-kinase delta syndrome | T-Lymphocyte Subsets - immunology | Class I Phosphatidylinositol 3-Kinases - genetics | Immunologic Deficiency Syndromes - etiology | Immunologic Deficiency Syndromes - mortality | CD8-Positive T-Lymphocytes - metabolism | Immunologic Deficiency Syndromes - diagnosis | T-Lymphocyte Subsets - metabolism | CD8-Positive T-Lymphocytes - immunology | Life Sciences | Human health and pathology | Economics and Finance | Psychology | Santé publique et épidémiologie | Humanities and Social Sciences | Psychiatrics and mental health
Journal Article
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
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2017, Volume 140, Issue 4, pp. 1152 - 1156.e10
Capsule summary APDS is a newly described and prevalent primary immunodeficiency disease, and we now expand the list of mutation sites to include E81K and... 
Allergy and Immunology | APDS | PASLI | immunodeficiency | PI3K | inherited immune disorder
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2015, Volume 136, Issue 3, pp. 819 - 821.e1
Journal Article
Lancet, The, ISSN 0140-6736, 2010, Volume 376, Issue 9735, pp. 91 - 102
Journal Article
Journal Article
Frontiers in aging neuroscience, ISSN 1663-4365, 2017, Volume 9, Issue MAY, p. 146
Journal Article