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1دورية أكاديمية
المؤلفون: Elena F. Kovzel, Bayan Gani, Adil A. Zhamankulov, Assel K. Baigojayeva
المصدر: Ķazaķstannyṇ Klinikalyķ Medicinasy, Vol 21, Iss 2, Pp 95-98 (2024)
مصطلحات موضوعية: NBS, autosomal recessive disorder, primary immune deficiency, microcephaly, Internal medicine, RC31-1245, Specialties of internal medicine, RC581-951
وصف الملف: electronic resource
العلاقة: https://www.clinmedkaz.org/download/nijmegen-breakage-syndrome-nbs-rare-clinical-case-in-kazakhstan-14498.pdfTest; https://doaj.org/toc/1812-2892Test; https://doaj.org/toc/2313-1519Test
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2دورية أكاديمية
المؤلفون: Nadia Makkoukdji, Valishti Pundit, Matthew Wyke, Jheison Giraldo, Travis Satnarine, Gary I. Kleiner, Melissa Gans
المصدر: Exploration of Immunology, Vol 4, Iss 2, Pp 218-237 (2024)
مصطلحات موضوعية: primary immune deficiency, targeted therapies, immune dysregulation, inborn errors of immunity, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
العلاقة: https://www.explorationpub.com/Journals/ei/Article/1003138Test; https://doaj.org/toc/2768-6655Test
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3دورية أكاديمية
المؤلفون: Ramasamy I
المصدر: Journal of Blood Medicine, Vol Volume 14, Pp 345-358 (2023)
مصطلحات موضوعية: calculated globulin, primary immune deficiency, common variable immune deficiency, secondary immune deficiency, light chain myeloma, non-secretory myeloma, Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
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4دورية أكاديمية
المصدر: Journal of Allergy and Clinical Immunology: Global, Vol 2, Iss 3, Pp 100116- (2023)
مصطلحات موضوعية: IRAK-4, haploinsufficiency, inborn error of immunity, primary immune deficiency, pneumococcal sepsis, immune globulin replacement, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2772829323000413Test; https://doaj.org/toc/2772-8293Test
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5دورية أكاديمية
المؤلفون: Kohn, Lisa A, Kohn, Donald B
مصطلحات موضوعية: Medical Biotechnology, Biomedical and Clinical Sciences, Gene Therapy, Hematology, Regenerative Medicine, Transplantation, Stem Cell Research, Biotechnology, Orphan Drug, Genetics, Stem Cell Research - Nonembryonic - Human, Pediatric, Rare Diseases, Development of treatments and therapeutic interventions, 5.2 Cellular and gene therapies, Inflammatory and immune system, Genetic Therapy, Granulomatous Disease, Chronic, Hematopoietic Stem Cell Transplantation, Hematopoietic Stem Cells, Humans, Primary Immunodeficiency Diseases, Severe Combined Immunodeficiency, Treatment Outcome, Wiskott-Aldrich Syndrome, X-Linked Combined Immunodeficiency Diseases, primary immune deficiency, gene therapy, retroviral vector, lentiviral vector, hematopoietic stem cell, Immunology, Medical Microbiology, Biochemistry and cell biology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/9vb827htTest
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6دورية أكاديمية
المؤلفون: Meitlis, Iana, Allenspach, Eric J, Bauman, Bradly M, Phan, Isabelle Q, Dabbah, Gina, Schmitt, Erica G, Camp, Nathan D, Torgerson, Troy R, Nickerson, Deborah A, Bamshad, Michael J, Hagin, David, Luthers, Christopher R, Stinson, Jeffrey R, Gray, Jessica, Lundgren, Ingrid, Church, Joseph A, Butte, Manish J, Jordan, Mike B, Aceves, Seema S, Schwartz, Daniella M, Milner, Joshua D, Schuval, Susan, Skoda-Smith, Suzanne, Cooper, Megan A, Starita, Lea M, Rawlings, David J, Snow, Andrew L, James, Richard G
المصدر: American Journal of Human Genetics. 107(6)
مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Genetic Testing, Human Genome, Biotechnology, Good Health and Well Being, Adenine, B-Cell CLL-Lymphoma 10 Protein, B-Lymphocytes, CARD Signaling Adaptor Proteins, Cell Line, Diploidy, Exons, Genes, Dominant, Genetic Variation, Guanylate Cyclase, Humans, Immunologic Deficiency Syndromes, Jurkat Cells, Lymphoma, NF-kappa B p50 Subunit, Piperidines, Polymorphism, Single Nucleotide, Primary Immunodeficiency Diseases, Sensitivity and Specificity, B cells, CARD11, gene editing, immune dysregulation, lymphoma, primary immune deficiency, saturation genome editing, variant interpretation, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/75x5w1wzTest
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7دورية أكاديمية
المؤلفون: Megha Tandon, Daniel V. DiGiacomo, Baijun Zhou, Paul Hesterberg, Chen E. Rosenberg, Sara Barmettler, Jocelyn R. Farmer
المصدر: Frontiers in Immunology, Vol 14 (2023)
مصطلحات موضوعية: COVID-19, vaccine, predominantly antibody deficiency, SARS-CoV-2, inborn error of immunity, primary immune deficiency, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1217718/fullTest; https://doaj.org/toc/1664-3224Test
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8دورية أكاديمية
المؤلفون: Tangye, Stuart G, Al-Herz, Waleed, Bousfiha, Aziz, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Torgerson, Troy R, Casanova, Jean-Laurent, Sullivan, Kathleen E
المصدر: Journal of clinical immunology. 40(1)
مصطلحات موضوعية: IUIS, autoinflammatory disorders, immune dysregulation, inborn errors of immunity, next-generation sequencing, primary immune deficiency, Immunology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/5m6962n0Test
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9دورية أكاديمية
المؤلفون: Bousfiha, Aziz, Jeddane, Leila, Picard, Capucine, Al-Herz, Waleed, Ailal, Fatima, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Puck, Jennifer, Torgerson, Troy R, Casanova, Jean-Laurent, Sullivan, Kathleen E, Tangye, Stuart G
المصدر: Journal of Clinical Immunology. 40(1)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Genetics, Autoimmunity, Genotype, Hereditary Autoinflammatory Diseases, Humans, Hypersensitivity, Immunity, Immunologic Deficiency Syndromes, Phenotype, IUIS, primary immune deficiency, inborn errors of immunity, immune dysregulation, autoinflammatory disorders, classification, Immunology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/54k10038Test
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10دورية أكاديمية
المؤلفون: Marsh, Rebecca A, Leiding, Jennifer W, Logan, Brent R, Griffith, Linda M, Arnold, Danielle E, Haddad, Elie, Falcone, E Liana, Yin, Ziyan, Patel, Kadam, Arbuckle, Erin, Bleesing, Jack J, Sullivan, Kathleen E, Heimall, Jennifer, Burroughs, Lauri M, Skoda-Smith, Suzanne, Chandrakasan, Shanmuganathan, Yu, Lolie C, Oshrine, Benjamin R, Cuvelier, Geoffrey DE, Thakar, Monica S, Chen, Karin, Teira, Pierre, Shenoy, Shalini, Phelan, Rachel, Forbes, Lisa R, Chellapandian, Deepak, Dávila Saldaña, Blachy J, Shah, Ami J, Weinacht, Katja G, Joshi, Avni, Boulad, Farid, Quigg, Troy C, Dvorak, Christopher C, Grossman, Debi, Torgerson, Troy, Graham, Pamela, Prasad, Vinod, Knutsen, Alan, Chong, Hey, Miller, Holly, de la Morena, M Teresa, DeSantes, Kenneth, Cowan, Morton J, Notarangelo, Luigi D, Kohn, Donald B, Stenger, Elizabeth, Pai, Sung-Yun, Routes, John M, Puck, Jennifer M, Kapoor, Neena, Pulsipher, Michael A, Malech, Harry L, Parikh, Suhag, Kang, Elizabeth M, submitted on behalf of the Primary Immune Deficiency Treatment Consortium
المصدر: Journal of clinical immunology. 39(7)
مصطلحات موضوعية: submitted on behalf of the Primary Immune Deficiency Treatment Consortium, Neutrophils, Transplantation Chimera, Humans, Inflammatory Bowel Diseases, Granulomatous Disease, Chronic, Graft vs Host Disease, Leukocyte Count, Prognosis, Treatment Outcome, Hematopoietic Stem Cell Transplantation, Transplantation, Homologous, Severity of Illness Index, Incidence, Retrospective Studies, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Young Adult, Allogeneic hematopoietic cell transplantation, allogeneic bone marrow transplantation, allogeneic hematopoietic stem cell transplantation, chronic granulomatous disease, inflammatory bowel disease, primary immunodeficiency, Autoimmune Disease, Inflammatory Bowel Disease, Digestive Diseases, Rare Diseases, Clinical Research, Transplantation, Oral and gastrointestinal, Immunology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/4cj1m3zgTest