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

المؤلفون: Marsh, Rebecca, Leiding, Jennifer, Logan, Brent, Griffith, Linda, Arnold, Danielle, Haddad, Elie, Falcone, E, Yin, Ziyan, Patel, Kadam, Arbuckle, Erin, Bleesing, Jack, Sullivan, Kathleen, Heimall, Jennifer, Burroughs, Lauri, Skoda-Smith, Suzanne, Chandrakasan, Shanmuganathan, Yu, Lolie, Oshrine, Benjamin, Cuvelier, Geoffrey, Thakar, Monica, Chen, Karin, Teira, Pierre, Shenoy, Shalini, Phelan, Rachel, Forbes, Lisa, Martinez, Caridad, Chellapandian, Deepak, Dávila Saldaña, Blachy, Shah, Ami, Weinacht, Katja, Joshi, Avni, Boulad, Farid, Quigg, Troy, Grossman, Debi, Torgerson, Troy, Graham, Pamela, Prasad, Vinod, Knutsen, Alan, Chong, Hey, Miller, Holly, de la Morena, M, DeSantes, Kenneth, Stenger, Elizabeth, Pai, Sung-Yun, Routes, John, Kapoor, Neena, Pulsipher, Michael, Malech, Harry, Parikh, Suhag, Kang, Elizabeth, Notarangelo, Luigi, Dvorak, Christopher, Puck, Jennifer, Cowan, Morton, Kohn, Donald

المصدر: Journal of Clinical Immunology. 40(8)

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/94s211k3Test

المؤلفون: Chan, Alice Y, Leiding, Jennifer W, Liu, Xuerong, Logan, Brent R, Burroughs, Lauri M, Allenspach, Eric J, Skoda-Smith, Suzanne, Uzel, Gulbu, Notarangelo, Luigi D, Slatter, Mary, Gennery, Andrew R, Smith, Angela R, Pai, Sung-Yun, Jordan, Michael B, Marsh, Rebecca A, Cowan, Morton J, Dvorak, Christopher C, Craddock, John A, Prockop, Susan E, Chandrakasan, Shanmuganathan, Kapoor, Neena, Buckley, Rebecca H, Parikh, Suhag, Chellapandian, Deepak, Oshrine, Benjamin R, Bednarski, Jeffrey J, Cooper, Megan A, Shenoy, Shalini, Davila Saldana, Blachy J, Forbes, Lisa R, Martinez, Caridad, Haddad, Elie, Shyr, David C, Chen, Karin, Sullivan, Kathleen E, Heimall, Jennifer, Wright, Nicola, Bhatia, Monica, Cuvelier, Geoffrey DE, Goldman, Frederick D, Meyts, Isabelle, Miller, Holly K, Seidel, Markus G, Vander Lugt, Mark T, Bacchetta, Rosa, Weinacht, Katja G, Andolina, Jeffrey R, Caywood, Emi, Chong, Hey, de la Morena, Maria Teresa, Aquino, Victor M, Shereck, Evan, Walter, Jolan E, Dorsey, Morna J, Seroogy, Christine M, Griffith, Linda M, Kohn, Donald B, Puck, Jennifer M, Pulsipher, Michael A, Torgerson, Troy R

مصطلحات موضوعية: Animals, Humans, Treatment Outcome, Hematopoietic Stem Cell Transplantation, Adolescent, Adult, Middle Aged, Child, Child, Preschool, Infant, T-Lymphocytes, Regulatory, Young Adult, Surveys and Questionnaires, Primary Immunodeficiency Diseases, autoimmunity, genetics, hematopoietic cell transplant, immune dysregulation, primary immune deficiencies, Clinical Research, Rare Diseases, Transplantation, 5.2 Cellular and gene therapies, Development of treatments and therapeutic interventions, Inflammatory and immune system, Immunology, Medical Microbiology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/1qm8w16wTest

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

المؤلفون: Pai, Sung-Yun, Logan, Brent R, Griffith, Linda M, Buckley, Rebecca H, Parrott, Roberta E, Dvorak, Christopher C, Kapoor, Neena, Hanson, Imelda C, Filipovich, Alexandra H, Jyonouchi, Soma, Sullivan, Kathleen E, Small, Trudy N, Burroughs, Lauri, Skoda-Smith, Suzanne, Haight, Ann E, Grizzle, Audrey, Pulsipher, Michael A, Chan, Ka Wah, Fuleihan, Ramsay L, Haddad, Elie, Loechelt, Brett, Aquino, Victor M, Gillio, Alfred, Davis, Jeffrey, Knutsen, Alan, Smith, Angela R, Moore, Theodore B, Schroeder, Marlis L, Goldman, Frederick D, Connelly, James A, Porteus, Matthew H, Xiang, Qun, Shearer, William T, Fleisher, Thomas A, Kohn, Donald B, Puck, Jennifer M, Notarangelo, Luigi D, Cowan, Morton J, O'Reilly, Richard J

المصدر: The New England journal of medicine. 371(5)

مصطلحات موضوعية: T-Lymphocytes, Humans, Severe Combined Immunodeficiency, Graft vs Host Disease, Immunoglobulin A, Lymphocyte Count, Treatment Outcome, Transplantation Conditioning, Retreatment, Hematopoietic Stem Cell Transplantation, Incidence, Survival Rate, Retrospective Studies, Siblings, Infant, Female, Male, CD3 Complex, Clinical Research, Organ Transplantation, Regenerative Medicine, Transplantation, Rare Diseases, Pediatric, Orphan Drug, Good Health and Well Being, Medical and Health Sciences, General & Internal Medicine

الوصول الحر: https://escholarship.org/uc/item/0mk3x8j6Test

المؤلفون: Allenspach, Eric J., Soveg, Frank, Finn, Laura S., So, Lomon, Gorman, Jacquelyn A., Rosen, Aaron B.I., Skoda-Smith, Suzanne, Wheeler, Marsha M., Barrow, Kaitlyn A., Rich, Lucille M., Debley, Jason S., Bamshad, Michael J., Nickerson, Deborah A., Savan, Ram, Torgerson, Troy R., Rawlings, David J.

المساهمون: National Human Genome Research Institute, National Heart, Lung, and Blood Institute, Office of the Director, National Institutes of Health, Brotman Baty Institute for Precision Medicine, Seattle Children’s Research Institute, Children’s Guild Association, Hansen Investigator in Pediatric Innovation Endowment

المصدر: Journal of Experimental Medicine ; volume 218, issue 5 ; ISSN 0022-1007 1540-9538

الإتاحة: https://doi.org/10.1084/jem.20201195Test

المؤلفون: Allenspach, Eric J, Bellodi, Cristian, Jeong, David, Kopmar, Noam, Nakamura, Tomoka, Ochs, Hans D, Ruggero, Davide, Skoda-Smith, Suzanne, Shimamura, Akiko, Torgerson, Troy R

المصدر: Journal of Allergy and Clinical Immunology. 132(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Immunology, Adult, Common Variable Immunodeficiency, Dyskeratosis Congenita, Humans, Immunoglobulins, Intravenous, Male, Allergy

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3mn0k9cdTest

المؤلفون: Chan, Alice Y., Leiding, Jennifer W., Liu, Xuerong, Logan, Brent R., Burroughs, Lauri M., Allenspach, Eric J., Skoda-Smith, Suzanne, Uzel, Gulbu, Notarangelo, Luigi D., Slatter, Mary, Gennery, Andrew R., Smith, Angela R., Pai, Sung-Yun, Jordan, Michael B., Marsh, Rebecca A., Cowan, Morton J., Dvorak, Christopher C., Craddock, John A., Prockop, Susan E., Chandrakasan, Shanmuganathan, Kapoor, Neena, Buckley, Rebecca H., Parikh, Suhag, Chellapandian, Deepak, Oshrine, Benjamin R., Bednarski, Jeffrey J., Cooper, Megan A., Shenoy, Shalini, Davila Saldana, Blachy J., Forbes, Lisa R., Martinez, Caridad, Haddad, Elie, Shyr, David C., Chen, Karin, Sullivan, Kathleen E., Heimall, Jennifer, Wright, Nicola, Bhatia, Monica, Cuvelier, Geoffrey D. E., Goldman, Frederick D., Meyts, Isabelle, Miller, Holly K., Seidel, Markus G., Vander Lugt, Mark T., Bacchetta, Rosa, Weinacht, Katja G., Andolina, Jeffrey R., Caywood, Emi, Chong, Hey, de la Morena, Maria Teresa

المصدر: Frontiers in Immunology ; volume 11 ; ISSN 1664-3224

مصطلحات موضوعية: Immunology, Immunology and Allergy

الإتاحة: https://doi.org/10.3389/fimmu.2020.00239Test

المؤلفون: Mallhi, Kanwaldeep K., Srikanthan, Meera A., Baker, Kelsey K., Frangoul, Haydar A., Torgerson, Troy R., Petrovic, Aleksandra, Geddis, Amy E., Carpenter, Paul A., Baker, K. Scott, Sandmaier, Brenda M., Thakar, Monica S., Skoda-Smith, Suzanne, Kiem, Hans-Peter, Storb, Rainer, Woolfrey, Ann E., Burroughs, Lauri M.

المساهمون: National Cancer Institute, National Heart, Lung, and Blood Institute

المصدر: Biology of Blood and Marrow Transplantation ; volume 26, issue 7, page 1332-1341 ; ISSN 1083-8791

مصطلحات موضوعية: Transplantation, Hematology

الإتاحة: https://doi.org/10.1016/j.bbmt.2020.03.018Test
https://api.elsevier.com/content/article/PII:S1083879120301762?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1083879120301762?httpAccept=text/plainTest

المؤلفون: Leiding, Jennifer W., Logan, Brent R., Yin, Ziyan, Arbuckle, Erin, Bleesing, Jack J., Sullivan, Kathleen E., Heimall, Jennifer, Burroughs, Lauri, Skoda-Smith, Suzanne, Chandrakasan, Shanmuganathan, Yu, Lolie C., Oshrine, Benjamin R., Cuvelier, Geoff D.E., Thakar, Monica, Chen, Karin, Shenoy, Shalini, Saldana, Blachy Davila, Weinacht, Katja G., Joshi, Avni, Boulad, Farid, Quigg, Troy C., Dvorak, Christopher C., Knutsen, Alan, Chong, Hey, Miller, Holly K., de la Morena, M. Teresa, DeSantes, Kenneth, Cowan, Morton J., Notarangelo, Luigi D., Kohn, Donald B., Pai, Sung-Yun, Stenger, Elizabeth, Puck, Jennifer, Kapoor, Neena, Pulsipher, Michael A., Haddad, Elie, Griffith, Linda M., Shearer, William, Malech, Harry L., Parikh, Suhag, Marsh, Rebecca A., Kang, Elizabeth M.

المصدر: Biology of Blood and Marrow Transplantation ; volume 24, issue 3, page S80-S81 ; ISSN 1083-8791

مصطلحات موضوعية: Transplantation, Hematology

الإتاحة: https://doi.org/10.1016/j.bbmt.2017.12.624Test
https://api.elsevier.com/content/article/PII:S1083879117315239?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1083879117315239?httpAccept=text/plainTest