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The New England journal of medicine, ISSN 0028-4793, 10/2014, Volume 371, Issue 15, pp. 1407 - 1417
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Antigens, CD34 | Gene Expression | Transduction, Genetic | Transgenes - physiology | Humans | Gene Silencing | X-Linked Combined Immunodeficiency Diseases - genetics | X-Linked Combined Immunodeficiency Diseases - therapy | Infant | Male | X-Linked Combined Immunodeficiency Diseases - immunology | Interleukin Receptor Common gamma Subunit - genetics | DNA, Complementary - therapeutic use | Animals | Gammaretrovirus - genetics | T-Lymphocytes - immunology | Mice | Mutation | Genetic Vectors | Genetic Therapy - adverse effects | Pediatrics | Severe combined immunodeficiency | Laboratories | Leukemia | Clinical trials | Families & family life | Insertion | Infections | Lymphocytes T | Immunology | Interleukin 2 | Lymphocytes | Peripheral blood | Bone marrow | Children | Deoxyribonucleic acid--DNA | CD34 antigen | Blood & organ donations | Hematology | CD3 antigen | Preventive medicine | Patients | Children & youth | Studies | Hospitals | Mutagenesis | Leukemogenesis | Gene therapy | Cancer | Proto-oncogenes | Index Medicus | Abridged Index Medicus
Journal Article
The New England journal of medicine, ISSN 0028-4793, 11/2009, Volume 361, Issue 21, pp. 2046 - 2055
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Guanine Nucleotide Exchange Factors - genetics | Skin Diseases, Infectious - genetics | Lymphocyte Activation | Humans | Male | Severe Combined Immunodeficiency - immunology | Genes, Recessive | Respiratory Tract Infections - genetics | CD8-Positive T-Lymphocytes - physiology | Severe Combined Immunodeficiency - genetics | Guanine Nucleotide Exchange Factors - metabolism | Pedigree | Gene Deletion | Immunoglobulins - blood | Respiratory Tract Infections - immunology | Female | Skin Diseases, Infectious - immunology | Longitudinal Studies | Virus diseases | Polymerase chain reaction | Usage | Gene mutations | Staphylococcal infections | Analysis | Causes of | Immunological deficiency syndromes | Otitis media | Genetic aspects | Health aspects | Mutation | Disease | Lymphocytes | Viral infections | Immune system | Index Medicus | Abridged Index Medicus
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2012, Volume 130, Issue 2, pp. 481 - 488.e2
Allergy and Immunology | common variable immunodeficiency | autoimmunity | LPS-responsive beige-like anchor (LRBA) | chronic diarrhea | 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 | Humans | Inflammatory Bowel Diseases - immunology | Molecular Sequence Data | Male | Lipopolysaccharides - immunology | Exome - immunology | Young Adult | DNA Mutational Analysis | Base Sequence | Inflammatory Bowel Diseases - genetics | Inflammatory Bowel Diseases - complications | Child | Immunophenotyping | Severe Combined Immunodeficiency - immunology | Severe Combined Immunodeficiency - complications | Severe Combined Immunodeficiency - genetics | Exome - genetics | Phenotype | Pedigree | Adaptor Proteins, Signal Transducing - deficiency | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Family | Consanguinity | Mutation | Medical colleges | Gene mutations | Gastrointestinal diseases | Genes | Immunodeficiency | Genetic research | Genetic aspects | Inflammatory bowel disease | Immune system | Index Medicus | Abridged Index Medicus | Inflammatory bowel diseases | Filtration | Intestine | Phenotyping | Point mutation | Gene mapping | Immunity | Genetic screening
Journal Article
Science (American Association for the Advancement of Science), ISSN 0036-8075, 08/2018, Volume 361, Issue 6404, pp. 810 - 813
Receptor-Interacting Protein Serine-Threonine Kinases/genetics | b_open_article_in_toll_access_journal | Humans | Arthritis/genetics | Male | Severe Combined Immunodeficiency/genetics | Fibroblasts/metabolism | Pedigree | Mitogen-Activated Protein Kinases/metabolism | Alleles | Female | Cytokines/metabolism | Inflammatory Bowel Diseases/genetics | Lymphopenia/genetics | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Gastrointestinal diseases | Colorectal diseases | Physiological aspects | Immunological deficiency syndromes | Genetic aspects | Arthritis | Health aspects | Protein kinases | Mutation (Biology) | Animal models | Inflammatory bowel diseases | Stem cell transplantation | Transplantation | Kinases | Hematopoietic stem cells | Proteins | Signal transduction | Pathways | Intestine | Age | Immune system | Cytokines | Threonine | Immunodeficiency | Organs | MAP kinase | Patients | Hemopoiesis | Signaling | Lymphopenia | Cell death | Stem cells | Polyarthritis | Mice | Protein-serine/threonine kinase | Mutation | Apoptosis | Index Medicus
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2013, Volume 131, Issue 5, pp. 1376 - 1383.e3
Allergy and Immunology | caspase recruitment domain 11 (CARD11) | B cell | infection | nuclear factor κB | Whole-exome sequencing | systematic variant categorization | T cell | severe combined immunodeficiency | 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 | Amino Acid Sequence | Cell Line | Jurkat Cells | Humans | CARD Signaling Adaptor Proteins - deficiency | Molecular Sequence Data | Infant | Guanylate Cyclase - antagonists & inhibitors | Severe Combined Immunodeficiency - immunology | Codon, Nonsense | CARD Signaling Adaptor Proteins - genetics | CARD Signaling Adaptor Proteins - antagonists & inhibitors | Homozygote | Severe Combined Immunodeficiency - complications | Severe Combined Immunodeficiency - genetics | Guanylate Cyclase - deficiency | Pedigree | Female | Guanylate Cyclase - genetics | Severe combined immunodeficiency | Analysis | Genomics | Flow cytometry | Laboratories | Colleges & universities | T cell receptors | Genomes | Kinases | Gene expression | Patients | Proteins | Ethics | Signal transduction | Lymphocytes | Mutation | Age | Deoxyribonucleic acid--DNA | Index Medicus | Abridged Index Medicus
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2012, Volume 130, Issue 1, pp. 177 - 183
Allergy and Immunology | phytohemagglutinin | CD3 | Combined immunodeficiency | T-cell receptor excision circles | 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 | Severe Combined Immunodeficiency - diagnosis | Humans | Child, Preschool | Infant | Male | Phytohemagglutinins - immunology | Severe Combined Immunodeficiency - immunology | Neonatal Screening | CD3 Complex - metabolism | Severe Combined Immunodeficiency - genetics | Flow Cytometry | T-Lymphocytes - metabolism | Immunologic Deficiency Syndromes - genetics | Lymphocyte Count | Female | Receptors, Antigen, T-Cell - immunology | T-Lymphocytes - immunology | Receptors, Antigen, T-Cell - genetics | Immunologic Deficiency Syndromes - diagnosis | Immunologic Deficiency Syndromes - immunology | Infant, Newborn | Bone marrow | Transplantation | T cells | Children's hospitals | Immunodeficiency | Lymphocytes | Skin & tissue grafts | Ear diseases | T cell receptors | Mutation | Medical screening | Deoxyribonucleic acid--DNA | Immune system | Index Medicus | Abridged Index Medicus
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 2015, Volume 136, Issue 5, pp. 1178 - 1185
Allergy and Immunology | Severe combined immunodeficiency | hematopoietic cell transplantation | DNA repair | nonhomologous end joining | radiation sensitivity | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | Genetic Therapy | DNA Ligases - genetics | Radiation Tolerance - immunology | Humans | DNA Repair Enzymes - genetics | Radiation | Hematopoietic Stem Cell Transplantation | Severe Combined Immunodeficiency - therapy | Severe Combined Immunodeficiency - immunology | DNA Repair - genetics | DNA-Binding Proteins - genetics | Animals | DNA-Activated Protein Kinase - genetics | Immunotherapy | Endonucleases | Cell Cycle Proteins - genetics | DNA Ligase ATP | Transplantation Conditioning - methods | Nuclear Proteins - genetics | Cyclophosphamide | Crosslinked polymers | Ionizing radiation | Ligases | Transplantation | T cells | Hematopoietic stem cells | Bone marrow | T cell receptors | Transplants & implants | Kinases | Lymphocytes | Index Medicus | Abridged Index Medicus
Journal Article
Journal of allergy and clinical immunology, ISSN 0091-6749, 02/2019, Volume 143, Issue 2, pp. 712 - 725.e5
type I interferon | V154M | Severe combined immunodeficiency | stimulator of interferon genes | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | T-Lymphocytes - physiology | Membrane Proteins - genetics | Agammaglobulinemia | Humans | Mice, Inbred C57BL | B-Lymphocytes - physiology | Mutation - genetics | Mice, Knockout | Cell Differentiation - genetics | Severe Combined Immunodeficiency - genetics | Animals | Inflammation - genetics | Interferon Type I - metabolism | Killer Cells, Natural - immunology | Mice | Receptor, Interferon alpha-beta - genetics | Disease Models, Animal | Genetic research | Interferon | Biological response modifiers | Analysis | Genes | Index Medicus | Abridged Index Medicus
Journal Article
Molecular therapy, ISSN 1525-0016, 05/2017, Volume 25, Issue 5, pp. 1132 - 1141
immunodeficiencies | gene therapy | retrovirus | Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Immunologic Deficiency Syndromes - pathology | History, 21st Century | Lentivirus - immunology | Humans | Transplantation, Homologous | Lentivirus - genetics | Gammaretrovirus - immunology | Severe Combined Immunodeficiency - pathology | Adenosine Deaminase - deficiency | Immunologic Deficiency Syndromes - immunology | Immunologic Deficiency Syndromes - therapy | Gene Expression | Genetic Vectors - chemistry | Genetic Vectors - immunology | Adenosine Deaminase - genetics | History, 20th Century | Severe Combined Immunodeficiency - therapy | Genetic Therapy - history | Clinical Trials as Topic | Severe Combined Immunodeficiency - immunology | Severe Combined Immunodeficiency - genetics | Gammaretrovirus - genetics | Immunologic Deficiency Syndromes - genetics | Hematopoietic Stem Cell Transplantation - methods | Adenosine Deaminase - immunology | Genetic Therapy - methods | Severe combined immunodeficiency | Disease | Advantages | Syngeneic grafts | Bone marrow transplantation | Metabolism | Medical screening | Patients | Vectors (Biology) | Progenitor cells | Hemopoiesis | Defects | Immunology | Mutagenesis | Metabolites | Lymphocytes | Stem cells | Bone marrow | Gene therapy