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Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 139, Issue 6, pp. 1914 - 1922
Allergy and Immunology | TNFAIP3 (A20) | Autoimmune lymphoproliferative syndrome | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Humans | Cells, Cultured | NF-kappa B - immunology | Infant | Male | Haploinsufficiency | Tumor Necrosis Factor alpha-Induced Protein 3 - genetics | Phenotype | Autoimmune Lymphoproliferative Syndrome - genetics | Leukocytes, Mononuclear - immunology | Autoimmune Lymphoproliferative Syndrome - immunology | Germ-Line Mutation | Tumor Necrosis Factor alpha-Induced Protein 3 - immunology | Gene mutations | Developmental biology | Analysis | Genomics | Genetic research | Genetic aspects | Information management | Children | Health aspects | Diseases | Pediatrics | Fas antigen | Disease | Transcription | Genes | Science | Frameshift mutation | Genomes | Kinases | Gene sequencing | Proteins | Signal transduction | Alterations | Functional anatomy | Databases | Pathways | Lymphocytes | Immunoglobulins | Patients | Tumor necrosis factor | Mutation | Autoimmune diseases | Apoptosis | Index Medicus | Abridged Index Medicus
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Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 138, Issue 6, pp. 1672 - 1680.e10
Allergy and Immunology | primary immunodeficiency disease | phosphatase and tensin homolog | Activated phosphatidylinositol 3-kinase δ syndrome | catalytic subunit p110δ of phosphatidylinositol 3-kinase | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | PTEN Phosphohydrolase - genetics | Phosphorylation | Class I Phosphatidylinositol 3-Kinases - genetics | Humans | Child, Preschool | Male | Signal Transduction - genetics | Mutation - genetics | Lymphocytes - immunology | DNA Mutational Analysis | Pedigree | Tensins - metabolism | Adolescent | Immunologic Deficiency Syndromes - genetics | Adult | Female | Proto-Oncogene Proteins c-akt - metabolism | Child | Index Medicus | Abridged Index Medicus
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Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations
Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 140, Issue 1, pp. 223 - 231
Allergy and Immunology | Acute lymphoblastic leukemia | Ikaros | common lymphoid progenitor | dysgammaglobulinemia | nuclear localization | B-cell deficiency | IKZF1 | autoimmune disease | germline mutation | DNA binding | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Autoimmunity | Humans | Autoimmune Diseases - immunology | Hematopoiesis - genetics | Male | Hematologic Diseases - immunology | Autoimmune Diseases - genetics | Ikaros Transcription Factor - genetics | Young Adult | B-Lymphocytes - immunology | Ikaros Transcription Factor - immunology | Adolescent | Germ-Line Mutation | Hematologic Diseases - genetics | Lymphocyte Count | Adult | Female | T-Lymphocytes - immunology | Child | Medical colleges | Developmental biology | Analysis | Leukemia | Immunodeficiency | Genetic aspects | Pediatrics | Flow cytometry | Lymphopoiesis | Transcription factors | Ikaros protein | Pathogenesis | Genomes | Kinases | Immunoglobulin A | Vasculitis | Systemic lupus erythematosus | Hematopoiesis | Cell cycle | Bone marrow | Localization | Age | Deoxyribonucleic acid--DNA | Binding | Nucleotide sequence | Abnormalities | Patients | Hemopoiesis | Diseases | Thrombocytopenic purpura | Chronic conditions | Lymphocytes B | Plasmids | Purpura | Pancytopenia | Stem cells | Mutation | Autoimmune diseases | Index Medicus | Abridged Index Medicus
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The Journal of pediatrics, ISSN 0022-3476, 2009, Volume 155, Issue 6, pp. 829 - 833
Pediatrics | Life Sciences & Biomedicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Predictive Value of Tests | Severe Combined Immunodeficiency - diagnosis | Humans | Middle Aged | Child, Preschool | Infant | Male | Neonatal Screening - methods | DNA Repair - genetics | Reverse Transcriptase Polymerase Chain Reaction | Feasibility Studies | Young Adult | Severe Combined Immunodeficiency - genetics | Adolescent | Severe Combined Immunodeficiency - blood | Ribonuclease P - blood | Adult | Female | Receptors, Antigen, T-Cell - genetics | Child | Infant, Newborn | Infants (Newborn) | Allergy | Medical colleges | Severe combined immunodeficiency | Immunodeficiency | Transplantation | T cells | Medical screening | Allergic reaction | Hematopoietic stem cells | Polymerase chain reaction | Bone marrow | Cytogenetics | Children | Health aspects | Medical informatics | Index Medicus | Abridged Index Medicus
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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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Journal of allergy and clinical immunology, ISSN 0091-6749, 2015, Volume 136, Issue 4, pp. 1018 - 1024
Allergy and Immunology | hyper-IgM syndrome | Cryptosporidium parvum | Cryptococcus neoformans | CD40 ligand | hematopoietic stem cell transplantation | primary immunodeficiency | Pneumocystis jirovecii | combined immunodeficiency | class-switch recombination | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Humans | Japan | Child, Preschool | Hematopoietic Stem Cell Transplantation | Infant | Male | Treatment Outcome | Mutation - genetics | Hyper-IgM Immunodeficiency Syndrome, Type 1 - mortality | Young Adult | CD40 Ligand - genetics | Adolescent | Survival Analysis | Adult | Female | Retrospective Studies | Hyper-IgM Immunodeficiency Syndrome, Type 1 - surgery | Child | Immunoglobulin Class Switching - genetics | Medical colleges | Transplantation | Hematopoietic stem cells | Stem cells | Bone marrow | Bacterial infections | Mutation | Transplants & implants | Mortality | Index Medicus | Abridged Index Medicus
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Journal of allergy and clinical immunology, ISSN 0091-6749, 2014, Volume 134, Issue 1, pp. 233 - 236.e3
Allergy and Immunology | Immunoglobulin M/genetics | Class I Phosphatidylinositol 3-Kinases/genetics | Gene Expression | Genetic Predisposition to Disease | Immunoglobulin G/genetics | Humans | Male | Immunoglobulin A/genetics | Immunologic Deficiency Syndromes/complications | Adolescent | Adult | Female | Heterozygote | Lymphoma, B-Cell/complications | Mutation | Immunoglobulin Class Switching | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Lymphoma, B-Cell - complications | Immunologic Deficiency Syndromes - pathology | Class I Phosphatidylinositol 3-Kinases - genetics | Immunoglobulin A - genetics | Class I Phosphatidylinositol 3-Kinases - immunology | Lymphoma, B-Cell - genetics | Immunoglobulin M - immunology | Immunoglobulin G - immunology | Lymphoma, B-Cell - immunology | Immunologic Deficiency Syndromes - immunology | Immunoglobulin M - genetics | Immunologic Deficiency Syndromes - complications | Immunoglobulin G - genetics | Immunoglobulin A - immunology | Lymphoma, B-Cell - pathology | Immunologic Deficiency Syndromes - genetics | Index Medicus | Abridged Index Medicus | primary immunodeficiency | Pi3Kinase delta chain | autosomal dominant | B-cell lymphoma
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Journal of allergy and clinical immunology, ISSN 0091-6749, 2016, Volume 138, Issue 5, pp. 1471 - 1473.e4
Allergy and Immunology | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Cord Blood Stem Cell Transplantation - methods | Fetal Blood - immunology | Humans | Female | T-Lymphocytes - immunology | Graft vs Host Disease - immunology | Infant, Newborn | DiGeorge Syndrome - immunology | T cells | Medical colleges | Heart failure | Cytomegalovirus | Immunization | T cell receptors | Medical screening | Patients | Defects | Whooping cough | Genotype & phenotype | Lymphocytes | Bone marrow | Mutation | Age | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus
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Journal of allergy and clinical immunology, ISSN 0091-6749, 2011, Volume 128, Issue 1, pp. 223 - 225.e2
Allergy and Immunology | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Fundamental immunology | Immunopathology | Biological and medical sciences | Medical sciences | Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis | Agammaglobulinemia - blood | Agammaglobulinemia - genetics | Humans | Sensitivity and Specificity | Gene Rearrangement, B-Lymphocyte, Light Chain - genetics | Agammaglobulinemia - diagnosis | Neonatal Screening - methods | Reverse Transcriptase Polymerase Chain Reaction | Early Diagnosis | Infant, Newborn | Index Medicus | Abridged Index Medicus | Medicin och hälsovetenskap
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Journal of allergy and clinical immunology, ISSN 0091-6749, 2012, Volume 131, Issue 5, pp. 1437 - 1440.e5
Allergy and Immunology | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Common Variable Immunodeficiency - immunology | Common Variable Immunodeficiency - classification | Genes, Immunoglobulin Light Chain | Humans | Middle Aged | Child, Preschool | Common Variable Immunodeficiency - genetics | Male | Young Adult | Immunoglobulin kappa-Chains - genetics | Adolescent | Adult | Receptors, Antigen, T-Cell - genetics | Genes, T-Cell Receptor | Recombination, Genetic - immunology | Child | 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
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