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Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. 597 - 606.e4
Allergy and Immunology | Recurrence | Humans | Middle Aged | Child, Preschool | Infant | Male | Antibiotic Prophylaxis | Class I Phosphatidylinositol 3-Kinases/antagonists & inhibitors | Young Adult | Immunoglobulins, Intravenous/therapeutic use | Enzyme Inhibitors/therapeutic use | Lymphoproliferative Disorders/genetics | Adult | Female | Surveys and Questionnaires | Child | Respiratory Tract Infections/genetics | Mutation/genetics | Hematopoietic Stem Cell Transplantation | International Cooperation | Herpesviridae Infections/genetics | Animals | Adolescent | Survival Analysis | Mice | Immunologic Deficiency Syndromes/genetics | Cohort Studies | Activated phosphoinositide 3-kinase δ syndrome | hematopoietic stem cell transplantation | phosphoinositide 3-kinase δ | immunodeficiency | phosphoinositide 3-kinase inhibitor | PIK3CD gene | bronchiectasis | p110δ-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Class I Phosphatidylinositol 3-Kinases - genetics | Herpesviridae Infections - mortality | Respiratory Tract Infections - genetics | Lymphoproliferative Disorders - therapy | Respiratory Tract Infections - mortality | Respiratory Tract Infections - therapy | Immunologic Deficiency Syndromes - mortality | Herpesviridae Infections - genetics | Immunologic Deficiency Syndromes - therapy | Lymphoproliferative Disorders - genetics | Mutation - genetics | Class I Phosphatidylinositol 3-Kinases - antagonists & inhibitors | Enzyme Inhibitors - therapeutic use | Lymphoproliferative Disorders - mortality | Herpesviridae Infections - therapy | Immunoglobulins, Intravenous - therapeutic use | Immunologic Deficiency Syndromes - genetics | Index Medicus | Abridged Index Medicus | Immune Deficiencies, Infection, and Systemic Immune Disorders | HSCT, Hematopoietic stem cell transplantation | BALF, Bronchoalveolar lavage fluid | CT, Computed tomography | APDS, Activated phosphoinositide-3 kinase δ syndrome | GOF, Gain of function | PI3K, Phosphoinositide 3-kinase | HSV, Herpes simplex virus | CMV, Cytomegalovirus | OR, Odds ratio | PPV, Pneumococcal polysaccharide vaccine | CNS, Central nervous system
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LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia
Journal of allergy and clinical immunology, ISSN 0091-6749, 2012, Volume 130, Issue 6, pp. 1428 - 1432
Allergy and Immunology | Humans | Child, Preschool | Agammaglobulinemia/complications | Adaptor Proteins, Signal Transducing/genetics | Sequence Deletion/genetics | Autoimmune Diseases/complications | Erythema Nodosum/complications | Homozygote | DNA Mutational Analysis | Anemia, Hemolytic/complications | Exome/genetics | Female | Consanguinity | Child | Cell Line, Transformed | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Autoimmune Diseases - physiopathology | Agammaglobulinemia - complications | Agammaglobulinemia - genetics | Autoimmune Diseases - complications | Anemia, Hemolytic - genetics | Agammaglobulinemia - physiopathology | Autoimmune Diseases - genetics | Exome - genetics | Erythema Nodosum - genetics | Erythema Nodosum - complications | Erythema Nodosum - physiopathology | Anemia, Hemolytic - complications | Adaptor Proteins, Signal Transducing - genetics | Anemia, Hemolytic - physiopathology | Sequence Deletion - genetics | Autoimmunity | Children's hospitals | Genes | Genetic research | Children | Universities and colleges | Health aspects | Diseases | Proteins | Lymphocytes | Mutation | Vaccines | Tetanus | Age | Immune system | Streptococcus infections | Index Medicus | Abridged Index Medicus | CVID | exome sequencing | autoimmunity | deletion | gene | Primary immunodeficiency
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Journal of allergy and clinical immunology, ISSN 0091-6749, 2017, Volume 140, Issue 2, pp. 628 - 630.e6
Allergy and Immunology | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Autoimmunity | Granulomatous Disease, Chronic - diagnosis | Phenotype | Genes, X-Linked | Humans | Symptom Assessment | Biomarkers | Heterozygote | United Kingdom | Granulomatous Disease, Chronic - etiology | Disease transmission | Phosphates | Discoid lupus erythematosus | Inflammatory bowel diseases | Serositis | Exanthema | Oxidase | Smooth muscle | Arthritis | Inactivation | NAD(P)H oxidase | Phagocytes | Pain | Coding | Intestine | Lupus | Photosensitivity | Gastrointestinal symptoms | Chronic granulomatous disease | Autoantibodies | Deactivation | NADPH-diaphorase | Raynaud disease | Neutrophils | Rheumatology | Diarrhea | Chorioretinitis | Carriers | Inflammatory bowel disease | Chronic conditions | Nephropathy | Ulcers | Nicotinamide adenine dinucleotide | Nicotinamide | Autoimmune diseases | Index Medicus | Abridged Index Medicus
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2014, Volume 134, Issue 1, pp. 215 - 218.e3
Allergy and Immunology | Homozygote | Immunologic Deficiency Syndromes/complications | DNA Mutational Analysis | I-kappa B Kinase/deficiency | Humans | Fatal Outcome | Female | Infant | Consanguinity | Codon, Nonsense | Mycobacterium Infections/complications | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Immunologic Deficiency Syndromes - pathology | I-kappa B Kinase - deficiency | Immunologic Deficiency Syndromes - complications | I-kappa B Kinase - genetics | Mycobacterium Infections - complications | Mycobacterium Infections - immunology | Mycobacterium Infections - genetics | Immunologic Deficiency Syndromes - genetics | I-kappa B Kinase - immunology | Mycobacterium Infections - pathology | Immunologic Deficiency Syndromes - immunology | Index Medicus | Abridged Index Medicus | Letter to the Editor
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Journal of allergy and clinical immunology, ISSN 0091-6749, 2015, Volume 137, Issue 3, pp. 940 - 942.e4
Allergy and Immunology | Promoter Regions, Genetic | Humans | Child, Preschool | Male | Common Variable Immunodeficiency/diagnosis | Interleukin Receptor Common gamma Subunit/genetics | Killer Cells, Natural/metabolism | Proto-Oncogene Proteins c-ets/metabolism | Lymphopenia/diagnosis | Protein Binding | Adult | Mutation | Binding Sites | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Common Variable Immunodeficiency - genetics | Interleukin Receptor Common gamma Subunit - genetics | Common Variable Immunodeficiency - diagnosis | Common Variable Immunodeficiency - metabolism | Lymphopenia - metabolism | Proto-Oncogene Proteins c-ets - metabolism | Killer Cells, Natural - metabolism | Lymphopenia - genetics | Lymphopenia - diagnosis | Index Medicus | Abridged Index Medicus | Letter to the Editor
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Frontiers in aging neuroscience, ISSN 1663-4365, 2017, Volume 9, Issue MAY, pp. 146 - 146
no | Sparse-constrained regression | Cortical feature | Mild cognitive impairment | Conversion | Feature reduction | Classification | Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Geriatrics & Gerontology | Science & Technology | Neuroimaging | Nuclear magnetic resonance--NMR | Medical imaging | Memory | Cortex | Cognitive ability | Substantia grisea | Atrophy | Magnetic resonance imaging | Spectrum analysis | Morphology | Biomarkers | Alzheimers disease | Dementia | mild cognitive impairment | feature reduction | classification | sparse-constrained regression | cortical feature | conversion
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