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1. Full Text A Modified γ-Retrovirus Vector for X-Linked Severe Combined Immunodeficiency
by Hacein-Bey-Abina, Salima and Pai, Sung-Yun and Gaspar, H. Bobby and Armant, Myriam and Berry, Charles C and Blanche, Stephane and Bleesing, Jack and Blondeau, Johanna and de Boer, Helen and Buckland, Karen F and Caccavelli, Laure and Cros, Guilhem and De Oliveira, Satiro and Fernández, Karen S and Guo, Dongjing and Harris, Chad E and Hopkins, Gregory and Lehmann, Leslie E and Lim, Annick and London, Wendy B and van der Loo, Johannes C.M and Malani, Nirav and Male, Frances and Malik, Punam and Marinovic, M. Angélica and McNicol, Anne-Marie and Moshous, Despina and Neven, Benedicte and Oleastro, Matías and Picard, Capucine and Ritz, Jerome and Rivat, Christine and Schambach, Axel and Shaw, Kit L and Sherman, Eric A and Silberstein, Leslie E and Six, Emmanuelle and Touzot, Fabien and Tsytsykova, Alla and Xu-Bayford, Jinhua and Baum, Christopher and Bushman, Frederic D and Fischer, Alain and Kohn, Donald B and Filipovich, Alexandra H and Notarangelo, Luigi D and Cavazzana, Marina and Williams, David A and Thrasher, Adrian J
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
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2. Full Text Combined Immunodeficiency Associated with DOCK8 Mutations
by Zhang, Qian and Davis, Jeremiah C and Davis, Joie and Lamborn, Ian T and Freeman, Alexandra F and Jing, Huie and Favreau, Amanda J and Matthews, Helen F and Turner, Maria L and Uzel, Gulbu and Holland, Steven M and Su, Helen C
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
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3. Full Text LPS-responsive beige-like anchor ( LRBA ) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency
by Alangari, Abdullah, MD and Alsultan, Abdulrahman, MD and Adly, Nouran, BSc and Massaad, Michel J., PhD and Kiani, Iram Shakir, MD and Aljebreen, Abdulrahman, MD and Raddaoui, Emad, MD and Almomen, Abdul-Kareem, MD and Al-Muhsen, Saleh, MD and Geha, Raif S., MD and Alkuraya, Fowzan S., MD
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
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4. Full Text Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation
by Cuchet-Lourenço, Delphine and Eletto, Davide and Wu, Changxin and Plagnol, Vincent and Papapietro, Olivier and Curtis, James and Ceron-Gutierrez, Lourdes and Bacon, Chris M and Hackett, Scott and Alsaleem, Ba and Maes, Mailis and Gaspar, Miguel and Alisaac, Ali and Goss, Emma and AlIissi, Eman and Siegmund, Daniela and Wajant, Harald and Kumararatne, Dinakantha and AlZahrani, Mofareh S and Arkwright, Peter D and Abinun, Mario and Doffinger, Rainer and Nejentsev, Sergey
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
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5. Full Text Whole-exome sequencing links caspase recruitment domain 11 ( CARD11 ) inactivation to severe combined immunodeficiency
by Greil, Johann, MD and Rausch, Tobias, PhD and Giese, Thomas, MD and Bandapalli, Obul R., PhD and Daniel, Volker, MD and Bekeredjian-Ding, Isabelle, MD and Stütz, Adrian M., PhD and Drees, Christoph, MD and Roth, Susanne, MD and Ruland, Jürgen, MD and Korbel, Jan O., PhD and Kulozik, Andreas E., MD, PhD
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
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6. Full Text Defining combined immunodeficiency
by Roifman, Chaim M., MD and Somech, Raz, MD and Kavadas, Fotini, MD and Pires, Linda, HBSc and Nahum, Amit, MD and Dalal, Ilan, MD and Grunebaum, Eyal, MD
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
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7. Full Text Radiation-sensitive severe combined immunodeficiency: The arguments for and against conditioning before hematopoietic cell transplantation—what to do?
by Cowan, Morton J., MD and Gennery, Andrew R., MD
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
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8. Full Text Severe combined immunodeficiency in stimulator of interferon genes (STING) V154M/wild-type mice
by Bouis, Delphine and Kirstetter, Peggy and Arbogast, Florent and Lamon, Delphine and Delgado, Virginia and Jung, Sophie and Ebel, Claudine and Jacobs, Hugues and Knapp, Anne-Marie and Jeremiah, Nadia and Belot, Alexandre and Martin, Thierry and Crow, Yanick J and André-Schmutz, Isabelle and Korganow, Anne-Sophie and Rieux-Laucat, Frédéric and Soulas-Sprauel, Pauline
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
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9. Full Text Evolving Gene Therapy in Primary Immunodeficiency
by Thrasher, Adrian J and Williams, David A
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