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1Academic Journal
المؤلفون: Le Coz, Carole, Nguyen, David N, Su, Chun, Nolan, Brian E, Albrecht, Amanda V, Xhani, Suela, Sun, Di, Demaree, Benjamin, Pillarisetti, Piyush, Khanna, Caroline, Wright, Francis, Chen, Peixin Amy, Yoon, Samuel, Stiegler, Amy L, Maurer, Kelly, Garifallou, James P, Rymaszewski, Amy, Kroft, Steven H, Olson, Timothy S, Seif, Alix E, Wertheim, Gerald, Grant, Struan FA, Vo, Linda T, Puck, Jennifer M, Sullivan, Kathleen E, Routes, John M, Zakharova, Viktoria, Shcherbina, Anna, Mukhina, Anna, Rudy, Natasha L, Hurst, Anna CE, Atkinson, T Prescott, Boggon, Titus J, Hakonarson, Hakon, Abate, Adam R, Hajjar, Joud, Nicholas, Sarah K, Lupski, James R, Verbsky, James, Chinn, Ivan K, Gonzalez, Michael V, Wells, Andrew D, Marson, Alex, Poon, Gregory MK, Romberg, Neil
المصدر: Journal of Experimental Medicine. 218(7)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Stem Cell Research, Stem Cell Research - Nonembryonic - Non-Human, Stem Cell Research - Nonembryonic - Human, Regenerative Medicine, Human Genome, Hematology, Genetics, Adolescent, Adult, Agammaglobulinemia, B-Lymphocytes, Cell Differentiation, Cell Line, Child, Child, Preschool, Chromatin, Dendritic Cells, Female, Gene Expression Regulation, Developmental, HEK293 Cells, Hematopoiesis, Hematopoietic Stem Cells, Humans, Infant, Lymphopoiesis, Male, Mutation, Precursor Cells, B-Lymphoid, Proto-Oncogene Proteins, Stem Cells, Trans-Activators, Young Adult, Medical and Health Sciences, Immunology, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
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2Academic Journal
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
URL الوصول: https://escholarship.org/uc/item/4cj1m3zg
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3Academic Journal
المؤلفون: Bintalib, Heba M., Ven, Annick van de, Jacob, Joseph, Davidsen, Jesper Rømhild, Fevang, Børre, Hanitsch, Leif G., Malphettes, Marion, Montfrans, Joris van, Maglione, Paul J., Milito, Cinzia, Routes, John M., Warnatz, Klaus, Hurst, John R.
المصدر: Frontiers in immunology. - 14 (2023) , 1190235, ISSN: 1664-3224
وصف الملف: pdf
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4Academic Journal
المؤلفون: de la Morena, M Teresa, Leonard, David, Torgerson, Troy R, Cabral-Marques, Otavio, Slatter, Mary, Aghamohammadi, Asghar, Chandra, Sharat, Murguia-Favela, Luis, Bonilla, Francisco A, Kanariou, Maria, Damrongwatanasuk, Rongras, Kuo, Caroline Y, Dvorak, Christopher C, Meyts, Isabelle, Chen, Karin, Kobrynski, Lisa, Kapoor, Neena, Richter, Darko, DiGiovanni, Daniela, Dhalla, Fatima, Farmaki, Evangelia, Speckmann, Carsten, Español, Teresa, Shcherbina, Anna, Hanson, Imelda Celine, Litzman, Jiri, Routes, John M, Wong, Melanie, Fuleihan, Ramsay, Seneviratne, Suranjith L, Small, Trudy N, Janda, Ales, Bezrodnik, Liliana, Seger, Reinhard, Raccio, Andrea Gomez, Edgar, J David M, Chou, Janet, Abbott, Jordan K, van Montfrans, Joris, González-Granado, Luis Ignacio, Bunin, Nancy, Kutukculer, Necil, Gray, Paul, Seminario, Gisela, Pasic, Srdjan, Aquino, Victor, Wysocki, Christian, Abolhassani, Hassan, Dorsey, Morna, Cunningham-Rundles, Charlotte, Knutsen, Alan P, Sleasman, John, Costa Carvalho, Beatriz Tavares, Condino-Neto, Antonio, Grunebaum, Eyal, Chapel, Helen, Ochs, Hans D, Filipovich, Alexandra, Cowan, Mort, Gennery, Andrew, Cant, Andrew, Notarangelo, Luigi D, Roifman, Chaim M
المصدر: The Journal of allergy and clinical immunology. 139(4)
مصطلحات موضوعية: Humans, Hematopoietic Stem Cell Transplantation, Proportional Hazards Models, Retrospective Studies, Cohort Studies, Follow-Up Studies, Time, Adolescent, Adult, Middle Aged, Child, Child, Preschool, Infant, Female, Male, Hyper-IgM Immunodeficiency Syndrome, Young Adult, Kaplan-Meier Estimate, CD40 ligand, Karnofsky/Lansky scores, X-linked hyper-IgM syndrome, defects in class-switch recombination, hematopoietic cell transplantation, long-term outcomes, primary immunodeficiency, Pediatric, Clinical Research, Transplantation, Inflammatory and immune system, Good Health and Well Being, Immunology, Allergy
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/6xs885dg
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5Academic Journal
المؤلفون: Foundation, Medical Advisory Committee of the Immune Deficiency, Shearer, William T, Fleisher, Thomas A, Buckley, Rebecca H, Ballas, Zuhair, Ballow, Mark, Blaese, R Michael, Bonilla, Francisco A, Conley, Mary Ellen, Cunningham-Rundles, Charlotte, Filipovich, Alexandra H, Fuleihan, Ramsay, Gelfand, Erwin W, Hernandez-Trujillo, Vivian, Holland, Steven M, Hong, Richard, Lederman, Howard M, Malech, Harry L, Miles, Stephen, Notarangelo, Luigi D, Ochs, Hans D, Orange, Jordan S, Puck, Jennifer M, Routes, John M, Stiehm, E Richard, Sullivan, Kathleen, Torgerson, Troy, Winkelstein, Jerry
المصدر: Journal of Allergy and Clinical Immunology. 133(4)
مصطلحات موضوعية: Medical Microbiology, Biomedical and Clinical Sciences, Immunology, Immunization, Infectious Diseases, Clinical Research, Transplantation, Biodefense, Emerging Infectious Diseases, Vaccine Related, Prevention, 3.4 Vaccines, Prevention of disease and conditions, and promotion of well-being, Infection, Good Health and Well Being, Bacterial Infections, Bacterial Vaccines, Child, Child, Preschool, Humans, Immunocompromised Host, Immunologic Deficiency Syndromes, Vaccines, Live, Unattenuated, Viral Vaccines, Virus Diseases, Live viral and bacterial vaccines, primary immunodeficiency disease, severe combined immunodeficiency disease, cellular immune reconstitution, Medical Advisory Committee of the Immune Deficiency Foundation, Allergy
URL الوصول: https://escholarship.org/uc/item/02n4q7t5
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6Academic Journal
المؤلفون: Medical Advisory Committee of the Immune Deficiency Foundation, Shearer, William T, Fleisher, Thomas A, Buckley, Rebecca H, Ballas, Zuhair, Ballow, Mark, Blaese, R Michael, Bonilla, Francisco A, Conley, Mary Ellen, Cunningham-Rundles, Charlotte, Filipovich, Alexandra H, Fuleihan, Ramsay, Gelfand, Erwin W, Hernandez-Trujillo, Vivian, Holland, Steven M, Hong, Richard, Lederman, Howard M, Malech, Harry L, Miles, Stephen, Notarangelo, Luigi D, Ochs, Hans D, Orange, Jordan S, Puck, Jennifer M, Routes, John M, Stiehm, E Richard, Sullivan, Kathleen, Torgerson, Troy, Winkelstein, Jerry
المصدر: The Journal of allergy and clinical immunology. 133(4)
مصطلحات موضوعية: Medical Advisory Committee of the Immune Deficiency Foundation, Humans, Bacterial Infections, Virus Diseases, Immunologic Deficiency Syndromes, Bacterial Vaccines, Viral Vaccines, Immunocompromised Host, Child, Child, Preschool, Vaccines, Live, Unattenuated, Live viral and bacterial vaccines, cellular immune reconstitution, primary immunodeficiency disease, severe combined immunodeficiency disease, Preschool, Vaccines, Live, Unattenuated, Allergy, Immunology
URL الوصول: https://escholarship.org/uc/item/02n4q7t5
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7Academic Journal
المؤلفون: Griffith, Linda M, Cowan, Morton J, Notarangelo, Luigi D, Kohn, Donald B, Puck, Jennifer M, Pai, Sung-Yun, Ballard, Barbara, Bauer, Sarah C, Bleesing, Jack JH, Boyle, Marcia, Brower, Amy, Buckley, Rebecca H, van der Burg, Mirjam, Burroughs, Lauri M, Candotti, Fabio, Cant, Andrew J, Chatila, Talal, Cunningham-Rundles, Charlotte, Dinauer, Mary C, Dvorak, Christopher C, Filipovich, Alexandra H, Fleisher, Thomas A, Bobby Gaspar, Hubert, Gungor, Tayfun, Haddad, Elie, Hovermale, Emily, Huang, Faith, Hurley, Alan, Hurley, Mary, Iyengar, Sumathi, Kang, Elizabeth M, Logan, Brent R, Long-Boyle, Janel R, Malech, Harry L, McGhee, Sean A, Modell, Fred, Modell, Vicki, Ochs, Hans D, O'Reilly, Richard J, Parkman, Robertson, Rawlings, David J, Routes, John M, Shearer, William T, Small, Trudy N, Smith, Heather, Sullivan, Kathleen E, Szabolcs, Paul, Thrasher, Adrian, Torgerson, Troy R, Veys, Paul, Weinberg, Kenneth, Zuniga-Pflucker, Juan Carlos, workshop participants
المصدر: The Journal of allergy and clinical immunology. 133(2)
مصطلحات موضوعية: workshop participants, Humans, Immunologic Deficiency Syndromes, Neonatal Screening, Hematopoietic Stem Cell Transplantation, Pilot Projects, Infant, Newborn, Societies, Scientific, ADA, Adenosine deaminase, Allogeneic hematopoietic cell transplantation, CGD, CIBMTR, Center for International Blood and Marrow Transplant Research, Chronic granulomatous disease, EBMT, ESID, European Group for Blood and Marrow Transplantation, European Society for Immunodeficiencies, GT, GVHD, Gene therapy, Graft-versus-host disease, HCT, Hematopoietic cell transplantation, IEWP, Inborn Errors Working Party, MAC, MUD, Matched unrelated donor, Myeloablative conditioning, NBS, NIAID, NIH, NK, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Natural killer, Newborn screening for SCID, PID, PIDTC, Primary Immune Deficiency Treatment Consortium, Primary immunodeficiency, RIC, Reduced-intensity conditioning, SCETIDE, SCID, Severe combined immunodeficiency, Stem Cell Transplantation for Immunodeficiencies in Europe, USIDNET, United States Immunodeficiency Network, WAS, Wiskott-Aldrich syndrome, clinical trial, gene therapy, primary immunodeficiency, Rare Diseases, Pediatric, Clinical Research, Inflammatory and immune system, Immunology, Allergy
URL الوصول: https://escholarship.org/uc/item/1rf91447
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8Academic Journal
المؤلفون: Anderson, John T., Bonagura, Vincent R., Cowan, Juthaporn, Hsu, Connie, Mustafa, S. Shahzad, Patel, Niraj C., Routes, John M., Sriaroon, Panida, Vinh, Donald C., Hofmann, Jutta H., Praus, Michaela, Rojavin, Mikhail A.
المساهمون: CSL Behring
المصدر: Journal of Clinical Immunology ; volume 41, issue 2, page 458-469 ; ISSN 0271-9142 1573-2592
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9Academic Journal
المؤلفون: Routes, John M, Ryan, Sharon, Morris, Kristin, Takaki, Rayna, Cerwenka, Adelheid, Lanier, Lewis L
المصدر: Journal of Experimental Medicine. 202(11)
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/8g88s2zr
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10Book
المؤلفون: Verbsky, James W., Routes, John M.
المصدر: Nelson Pediatric Symptom-Based Diagnosis: Common Diseases and their Mimics ; page 1015-1046.e1 ; ISBN 9780323761741
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11Academic Journal
المؤلفون: Tuovinen, Elina A., Grönholm, Juha, Öhman, Tiina, Pöysti, Sakari, Toivonen, Raine, Kreutzman, Anna, Heiskanen, Kaarina, Trotta, Luca, Toiviainen-Salo, Sanna, Routes, John M., Verbsky, James, Mustjoki, Satu, Saarela, Janna, Kere, Juha, Varjosalo, Markku, Hänninen, Arno, Seppänen, Mikko R. J.
المساهمون: TRIMM - Translational Immunology Research Program, University of Helsinki, Children's Hospital, HUS Children and Adolescents, Research Programs Unit, Institute of Biotechnology, Helsinki Institute of Life Science HiLIFE, Division of Pharmaceutical Biosciences, HUSLAB, Hematologian yksikkö, HUS Comprehensive Cancer Center, Department of Oncology, Helsinki University Hospital Area, Institute for Molecular Medicine Finland, HUS Medical Imaging Center, Department of Diagnostics and Therapeutics, Department of Clinical Chemistry and Hematology, Janna Saarela / Principal Investigator, Department of Medical and Clinical Genetics, STEMM - Stem Cells and Metabolism Research Program, Juha Kere / Principal Investigator, Molecular Systems Biology, Clinicum
مصطلحات موضوعية: X-linked combined immunodeficiency diseases, severe combined immunodeficiency, atypical, interleukin receptor common gamma subunit, IL2RG, endoplasmic reticulum, Golgi apparatus, COMBINED IMMUNE-DEFICIENCY, GAMMA-CHAIN, CELL DIFFERENTIATION, INTERLEUKIN-2 IL-2, T-LYMPHOCYTES, NK-CELLS, REVERSION, BIOLOGY, DISEASE, PROLIFERATION, Biomedicine
وصف الملف: application/pdf
Relation: Open access funding provided by University of Helsinki including Helsinki University Central Hospital. Funding was received by Pediatric Academic Track funding (J.G.) and hospital research funds (E.T., M.S.) from Pediatric Research Center, HUS Helsinki University Hospital and by grants from Emil Aaltonen Foundation (J. G.), Academy of Finland (J.G., M.V., T. O., S.M.), Finnish Pediatric Research Foundation (E.T., J.G., M.S.), Sigrid Juselius Foundation (J.K., M.V., T.O.), Novo Nordisk Foundation (A. H.), Finnish Cancer Institute (M.V., T.O.), Magnus Ehrnrooth Foundation (M. V., T.O.), and The Children's Research Institute, Milwaukee WI, USA (J.V.).; Tuovinen , E A , Grönholm , J , Öhman , T , Pöysti , S , Toivonen , R , Kreutzman , A , Heiskanen , K , Trotta , L , Toiviainen-Salo , S , Routes , J M , Verbsky , J , Mustjoki , S , Saarela , J , Kere , J , Varjosalo , M , Hänninen , A & Seppänen , M R J 2020 , ' Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency ' , Journal of Clinical Immunology , vol. 40 , no. 3 , pp. 503-514 . https://doi.org/10.1007/s10875-020-00745-2; ORCID: /0000-0001-6647-8873/work/76723575; ORCID: /0000-0002-0853-6219/work/76724125; ORCID: /0000-0002-1340-9732/work/76725251; ORCID: /0000-0001-9733-3650/work/76727024; ORCID: /0000-0002-4190-0000/work/76727481; ORCID: /0000-0002-0816-8241/work/76727551; http://hdl.handle.net/10138/317341; 61d95a85-9ece-4add-ad78-d3684fbafca5; 000516296100001
الاتاحة: http://hdl.handle.net/10138/317341
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12Academic Journal
المؤلفون: Turner, Amy J., Aggarwal, Praful, Miller, Halli E., Waukau, Jill, Routes, John M., Broeckel, Ulrich, Robinson, Richard T.
المصدر: Proceedings of the National Academy of Sciences of the United States of America, 2015 Dec . 112(50), 15414-15419.
URL الوصول: https://www.jstor.org/stable/26466610
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13Academic Journal
المؤلفون: Radke, Jay R., Routes, John M., Cook, James L.
المساهمون: U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences, U.S. Department of Health & Human Services | National Institutes of Health
المصدر: Cell Death Discovery ; volume 5, issue 1 ; ISSN 2058-7716
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14Academic Journal
المؤلفون: Yang, Chao, Siebert, Jason R., Burns, Robert, Gerbec, Zachary J., Bonacci, Benedetta, Rymaszewski, Amy, Rau, Mary, Riese, Matthew J., Rao, Sridhar, Carlson, Karen-Sue, Routes, John M., Verbsky, James W., Thakar, Monica S., Malarkannan, Subramaniam
المساهمون: U.S. Department of Health & Human Services | NIH | National Cancer Institute, U.S. Department of Health & Human Services | NIH | National Institute of Allergy and Infectious Diseases
المصدر: Nature Communications ; volume 10, issue 1 ; ISSN 2041-1723
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15Academic Journal
المؤلفون: Garcia-Perez, Josselyn E., Baxter, Ryan M., Kong, Daniel S., Tobin, Richard, McCarter, Martin, Routes, John M., Verbsky, James, Jordan, Michael B., Dutmer, Cullen M., Hsieh, Elena W. Y.
المساهمون: Foundation for the National Institutes of Health, Boettcher Foundation, Jeffrey Modell Foundation
المصدر: Frontiers in Immunology ; volume 10 ; ISSN 1664-3224
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16Academic Journal
المؤلفون: Noonan, Emily, Straesser, Matthew D., Makin, Thomas, Williams, Abigail, Al-Hazaymeh, Amani, Routes, John M., Verbsky, James, Borish, Larry, Lawrence, Monica G.
المساهمون: NIH, CSL Behring
المصدر: Journal of Clinical Immunology ; volume 43, issue 6, page 1448-1454 ; ISSN 0271-9142 1573-2592
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17Academic Journal
المؤلفون: Lui, Victor G., Ghosh, Tusharkanti, Rymaszewski, Amy, Chen, Shaoying, Baxter, Ryan M., Kong, Daniel S., Ghosh, Debashis, Routes, John M., Verbsky, James W., Hsieh, Elena W. Y.
المساهمون: NIH NIAMS, NIH NIAID, Jeffrey Modell Foundation, Cancer League of Colorado
المصدر: Journal of Clinical Immunology ; volume 43, issue 6, page 1311-1325 ; ISSN 0271-9142 1573-2592
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18Academic Journal
المؤلفون: Baumann, Ulrich, Routes, John M., Soler-Palacín, Pere, Jolles, Stephen
وصف الملف: application/pdf
Relation: https://orca.cardiff.ac.uk/id/eprint/114036/1/fimmu-09-01837.pdf; Baumann, Ulrich, Routes, John M., Soler-Palacín, Pere and Jolles, Stephen https://orca.cardiff.ac.uk/view/cardiffauthors/A076912M.html 2018. The lung in primary immunodeficiencies: new concepts in infection and inflammation. Frontiers in Immunology 9 , 1837. 10.3389/fimmu.2018.01837 https://doi.org/10.3389/fimmu.2018.01837 file https://orca.cardiff.ac.uk/id/eprint/114036/1/fimmu-09-01837.pdf
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19Academic Journal
المؤلفون: Leonard, David, Notarangelo, Luigi D., Roifman, Chaim M., Raccio, Andrea Gomez, Edgar, J. David M., Chou, Janet, de la Morena, M. Teresa, Torgerson, Troy R., Cabral-Marques, Otavio, Slatter, Mary, Aghamohammadi, Asghar, Chandra, Sharat, Murguia-Favela, Luis, Bonilla, Francisco A., Kanariou, Maria, Damrongwatanasuk, Rongras, Kuo, Caroline Y., Dvorak, Christopher C., Meyts, Isabelle, Chen, Karin, Kobrynski, Lisa, Kapoor, Neena, Richter, Darko, DiGiovanni, Daniela, Dhalla, Fatima, Farmaki, Evangelia, Speckmann, Carsten, Espanol, Teresa, Shcherbina, Anna, Hanson, Imelda Celine, Litzman, Jiri, Routes, John M., Wong, Melanie, Fuleihan, Ramsay, Seneviratne, Suranjith L., Small, Trudy N., Janda, Ales, Bezrodnik, Liliana, Seger, Reinhard, Abbott, Jordan K., van Montfrans, Joris, Gonzalez-Granado, Luis Ignacio, Bunin, Nancy, Gray, Paul, Seminario, Gisela, Pasic, Srdjan, Aquino, Victor, Wysocki, Christian, Abolhassani, Hassan, Dorsey, Morna, Cunningham-Rundles, Charlotte, Knutsen, Alan P., Sleasman, John, Carvalho, Beatriz Tavares Costa, Condino-Neto, Antonio, Grunebaum, Eyal, Chapel, Helen, Ochs, Hans D., Filipovich, Alexandra, Cowan, Mort, Gennery, Andrew, Cant, Andrew, Kutukculer, Necil
مصطلحات موضوعية: CD40 ligand, long-term outcomes, primary immunodeficiency, Karnofsky/Lansky scores, X-linked hyper-IgM syndrome, hematopoietic cell transplantation, defects in class-switch recombination
Relation: Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Journal of Allergy and Clinical Immunology; https://hdl.handle.net/11454/32295; https://doi.org/10.1016/j.jaci.2016.07.039; 139; 1282; 1292
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20Academic Journal
المؤلفون: Thakar, Monica S., Hintermeyer, Mary K., Gries, Miranda G., Routes, John M., Verbsky, James W.
المصدر: Frontiers in Immunology ; volume 8 ; ISSN 1664-3224