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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
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 138, Issue 1, pp. 210 - 218.e9
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 | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | 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 | Index Medicus | Abridged Index Medicus | 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, ISSN 0091-6749, 2014, Volume 134, Issue 1, pp. 116 - 126.e11
Allergy and Immunology | patient self-reported outcomes | treatment | Common variable immunodeficiency | primary antibody deficiency | autoimmunity | enteropathy | immunoglobulin replacement | quality of life | lymphadenopathy | granulomas | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Fundamental immunology | Immunopathology | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Biological and medical sciences | Medical sciences | Immunodeficiencies. Immunoglobulinopathies | Immunodeficiencies | Autoimmunity | Common Variable Immunodeficiency - immunology | Common Variable Immunodeficiency - drug therapy | Humans | Child, Preschool | Lymphoproliferative Disorders - complications | Male | Lymphoproliferative Disorders - immunology | Splenomegaly - pathology | Bronchiectasis - pathology | Common Variable Immunodeficiency - mortality | Pneumonia - mortality | Pneumonia - immunology | Adult | Female | Retrospective Studies | Child | Europe | Delayed Diagnosis | Common Variable Immunodeficiency - complications | Lymphoproliferative Disorders - mortality | Pneumonia - drug therapy | Immunoglobulins, Intravenous - therapeutic use | Adolescent | Age of Onset | Survival Analysis | Pneumonia - complications | Lymphoproliferative Disorders - drug therapy | Immunological deficiency syndromes | Care and treatment | Health aspects | Respiratory tract diseases | Studies | Pneumonia | Databases | Meningitis | Multivariate analysis | Patients | Lymphoma | Age | Index Medicus | Abridged Index Medicus | Medicin och hälsovetenskap
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Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders
Journal of allergy and clinical immunology, ISSN 0091-6749, 2017, Volume 141, Issue 1, pp. 322 - 328.e10
Allergy and Immunology | hematopoietic stem cell transplantation | Ataxia-telangiectasia | DNA repair disorders | DNA ligase IV deficiency | Nijmegen breakage syndrome | Cernunnos-XLF deficiency | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Prognosis | Follow-Up Studies | Humans | Child, Preschool | Infant | Male | DNA Repair-Deficiency Disorders - diagnosis | DNA Breaks, Double-Stranded | Young Adult | DNA Repair-Deficiency Disorders - mortality | Hematopoietic Stem Cell Transplantation - adverse effects | Female | Child | Graft vs Host Disease - diagnosis | Graft vs Host Disease - etiology | Virus Diseases | Kaplan-Meier Estimate | Treatment Outcome | DNA Repair | Adolescent | Alleles | Hematopoietic Stem Cell Transplantation - methods | Mutation | DNA Repair-Deficiency Disorders - genetics | DNA Repair-Deficiency Disorders - therapy | Graft-versus-host reaction | Radiosensitivity | Transplants & implants | Syngeneic grafts | DNA damage | Disorders | Bone marrow transplantation | Transplantation | Infections | Malignancy | Kinases | DNA repair | Alkylation | Proteins | Consortia | Lymphocytes | Cell cycle | Bone marrow | Ataxia | Conditioning | Repair | Deoxyribonucleic acid--DNA | Antigens | Complications | Anemia | Mortality | Immunodeficiency | DNA ligase (ATP) | Radiation therapy | Double-strand break repair | Patients | Survival | Immunological tolerance | Hemopoiesis | Cyclophosphamide | Chemotherapy | Breakage | Stem cells | Ataxia telangiectasia | Index Medicus | Abridged Index Medicus
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2012, Volume 130, Issue 5, pp. 1144 - 1152.e11
Allergy and Immunology | LCK, SRC tyrosine kinase | recurrent infections | CD4 | T-cell receptor signaling | autoinflammation | immunodeficiency | genetic defect | lymphopenia | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Hematologic and hematopoietic diseases | Other diseases. Hematologic involvement in other diseases | Fundamental immunology | Immunopathology | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Biological and medical sciences | Medical sciences | Immunodeficiencies. Immunoglobulinopathies | Immunodeficiencies | Genetic Predisposition to Disease | T-Lymphocytopenia, Idiopathic CD4-Positive - diagnosis | Receptors, Antigen, T-Cell - metabolism | Genes, Recessive - genetics | Humans | Cells, Cultured | Child, Preschool | T-Lymphocytopenia, Idiopathic CD4-Positive - genetics | Mutation, Missense - genetics | Polymorphism, Genetic | CD4-Positive T-Lymphocytes - immunology | DNA Mutational Analysis | Pedigree | Immunologic Deficiency Syndromes - genetics | Lymphocyte Specific Protein Tyrosine Kinase p56(lck) - chemistry | Female | Lymphocyte Specific Protein Tyrosine Kinase p56(lck) - genetics | Calcium Signaling - genetics | France | Immunologic Deficiency Syndromes - diagnosis | Tyrosine | Antigens | T cells | Genes | Immunodeficiency | T cell receptors | Infections | Kinases | Viral infections | Immune system | Index Medicus | Abridged Index Medicus | Autoimmunity | Calcium mobilization | Phosphorylation | CD8 antigen | Recurrent infection | Inflammation | Lymphocytes T | Risk factors | CD4 antigen | Calcium signalling | T-cell receptor | Missense mutation | Lymphopenia | Lck protein | Respiratory tract diseases | Differentiation | Protein-tyrosine kinase | Age | uniparental disomy | Life Sciences | Biochemistry, Molecular Biology
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 138, Issue 6, pp. 1752 - 1755
Allergy and Immunology | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Pyrazoles - therapeutic use | Membrane Proteins - genetics | Humans | Janus Kinase 2 - genetics | Child, Preschool | Male | Janus Kinase 1 - antagonists & inhibitors | Mutation - genetics | Protein Kinase Inhibitors - therapeutic use | Janus Kinase 1 - genetics | Female | Child | Janus Kinase 2 - antagonists & inhibitors | Autoimmunity | Immunogenetics | Dendritic cells | Genomics | Hospices (Terminal care) | Mutual fund industry | Genetic aspects | Phosphorylation | Disease | Lymphocytes | Mortality | Inflammation | Mutation | Drug dosages | Patients | Index Medicus | Abridged Index Medicus | Life Sciences | Microbiology and Parasitology | Bacteriology | Virology
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 139, Issue 4, pp. 1302 - 1310.e4
Allergy and Immunology | hematopoietic stem cell transplantation | T-cell deficiency | natural history | combined immunodeficiency | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Prospective Studies | Humans | Child, Preschool | Hematopoietic Stem Cell Transplantation | Severe Combined Immunodeficiency - therapy | Infant | Male | Severe Combined Immunodeficiency - immunology | Adolescent | Female | Severe Combined Immunodeficiency - pathology | Child | Research Design | Autoimmunity | Medical research | Immunogenetics | Analysis | Stem cells | Immunodeficiency | Medicine, Experimental | Transplantation | T cells | Immune response | Parameters | Transplants & implants | Disease | Mortality | Infections | T cell receptors | Lymphocytes T | Medical screening | Kinases | Decision analysis | Immunity | Consortia | Proteins | Lymphocytes | Medical prognosis | Mutation | Diagnosis | Immune system | Index Medicus | Abridged Index Medicus
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2014, Volume 134, Issue 5, pp. 1131 - 1141.e9
Allergy and Immunology | Inflammatory bowel disease | Crohn disease | monocytes | NOD receptors | X-linked inhibitor of apoptosis immunodeficiency | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Gastroenterology. Liver. Pancreas. Abdomen | Stomach. Duodenum. Small intestine. Colon. Rectum. Anus | Fundamental immunology | Immunopathology | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Biological and medical sciences | Medical sciences | Immunodeficiencies. Immunoglobulinopathies | Immunodeficiencies | Other diseases. Semiology | Crohn Disease - genetics | Humans | Child, Preschool | Infant | Male | Nod2 Signaling Adaptor Protein - genetics | Adult | Female | Genetic Diseases, X-Linked - genetics | Child | Cytokines - genetics | Cytokines - blood | Genetic Diseases, X-Linked - blood | Chromosomes, Human, X - genetics | Lymphoproliferative Disorders - genetics | Lymphoproliferative Disorders - pathology | Lymphoproliferative Disorders - blood | X-Linked Inhibitor of Apoptosis Protein - genetics | Hemizygote | Nod2 Signaling Adaptor Protein - metabolism | Crohn Disease - pathology | Crohn Disease - blood | Adolescent | Age of Onset | Genetic Diseases, X-Linked - pathology | Heterozygote | Chromosomes, Human, X - metabolism | Cohort Studies | Women | Oligomers | Crohn's disease | Health aspects | Risk factors | Apoptosis | Proteins | Signal transduction | Cytokines | Biopsy | Boys | Mutation | Patients | Age | Immune system | Index Medicus | Abridged Index Medicus
Journal Article