المؤلفون: Hwang, SuJin, Tatsi, Christina, Kuehn, Hye, Niemela, Julie, Stoddard, Jennifer, Su, Yan, Lodish, Maya, Uzel, Gulbu, Spolski, Rosanne, Leonard, Warren, Holland, Steven, Fleisher, Thomas, Stratakis, Constantine, Rosenzweig, Sergio

المصدر: Journal of Allergy and Clinical Immunology. 149(1)

مصطلحات موضوعية: BCL2, NF-κB, PI3K, cytokines, infections, interleukins, Adolescent, Apoptosis, Child, Cushing Syndrome, Cytokines, Female, Glucocorticoids, Humans, Leukocyte Count, Lymphopenia, Male, T-Lymphocytes

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/82n185cq
https://escholarship.org/content/qt82n185cq/qt82n185cq.pdf

المؤلفون: Nunes-Santos, Cristiane J., Kuehn, HyeSun, Boast, Brigette, Hwang, SuJin, Kuhns, Douglas B., Stoddard, Jennifer, Niemela, Julie E., Fink, Danielle L., Pittaluga, Stefania, Abu-Asab, Mones, Davies, John S., Barr, Valarie A., Kawai, Tomoki, Delmonte, Ottavia M., Bosticardo, Marita, Garofalo, Mary, Carneiro-Sampaio, Magda, Somech, Raz, Gharagozlou, Mohammad, Parvaneh, Nima, Samelson, Lawrence E., Fleisher, Thomas A., Puel, Anne, Notarangelo, Luigi D., Boisson, Bertrand, Casanova, Jean-Laurent, Derfalvi, Beata, Rosenzweig, Sergio D.

المساهمون: U.S. Department of Health & Human Services | National Institutes of Health

المصدر: Nature Communications ; volume 14, issue 1 ; ISSN 2041-1723

الاتاحة: http://dx.doi.org/10.1038/s41467-023-39272-0
https://www.nature.com/articles/s41467-023-39272-0.pdf
https://www.nature.com/articles/s41467-023-39272-0

المؤلفون: Boast, Brigette, Goel, Shubham, González-Granado, Luis I., Niemela, Julie, Stoddard, Jennifer, Edwards, Emily S.J., Seneviratne, Sandali, Spensberger, Dominik, Quesada-Espinosa, Juan F., Allende, Luis M., McDonnell, John, Haseley, Alexandria, Lesmana, Harry, Walkiewicz, Magdalena A., Muhammad, Emad, Bosco, Julian J., Fleisher, Thomas A., Cohen, Shai, Holland, Steven M., van Zelm, Menno C., Enders, Anselm, Kuehn, Hye Sun, Rosenzweig, Sergio D.

المصدر: Journal of Allergy and Clinical Immunology ; volume 152, issue 3, page 736-747 ; ISSN 0091-6749

الاتاحة: http://dx.doi.org/10.1016/j.jaci.2023.05.017
https://api.elsevier.com/content/article/PII:S0091674923007121?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0091674923007121?httpAccept=text/plain

المؤلفون: Heimall, Jennifer, Buckley, Rebecca H, Puck, Jennifer, Fleisher, Thomas A, Gennery, Andrew R, Haddad, Elie, Neven, Benedicte, Slatter, Mary, Roderick, Skinner, Baker, K Scott, Dietz, Andrew C, Duncan, Christine, Griffith, Linda M, Notarangelo, Luigi, Pulsipher, Michael A, Cowan, Morton J

المصدر: Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation. 23(8)

مصطلحات موضوعية: Humans, Severe Combined Immunodeficiency, Hematopoietic Stem Cell Transplantation, Consensus, Adolescent, Adult, Child, Child, Preschool, Infant, Infant, Newborn, Female, Male, Practice Guidelines as Topic, Allografts, Bone marrow transplantation, Long-term follow-up guidelines, Severe combined immune deficiency, Pediatric, Cancer, Rare Diseases, Transplantation, Pediatric Research Initiative, Regenerative Medicine, Hematology, Clinical Sciences, Immunology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2p41d029

المؤلفون: Heimall, Jennifer, Puck, Jennifer, Buckley, Rebecca, Fleisher, Thomas A, Gennery, Andrew R, Neven, Benedicte, Slatter, Mary, Haddad, Elie, Notarangelo, Luigi D, Baker, K Scott, Dietz, Andrew C, Duncan, Christine, Pulsipher, Michael A, Cowan, Mort J

المصدر: Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation. 23(3)

مصطلحات موضوعية: B-Lymphocytes, T-Lymphocytes, Humans, Severe Combined Immunodeficiency, Transplantation Conditioning, Hematopoietic Stem Cell Transplantation, Graft Survival, Research, Time Factors, Adolescent, Adult, Child, Child, Preschool, Infant, Young Adult, Late effects, Pediatric allogeneic bone marrow transplantation, Severe combined immunodeficiency, Regenerative Medicine, Rare Diseases, Pediatric, Stem Cell Research, Hematology, Transplantation, Pediatric allogeneic bone, marrow transplantation, Severe combined, immunodeficiency, Clinical Sciences, Immunology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4c1190np

المؤلفون: Natchanun Klangkalya, Fleisher, Thomas A., Rosenzweig, Sergio D.

المصدر: Allergy & Asthma Proceedings; Sep2024, Vol. 45 Issue 5, p355-363, 9p

مصطلحات موضوعية: PRIMARY immunodeficiency diseases, HEMATOPOIETIC stem cell transplantation, ANTIBODY titer, GENETIC disorders, GENETIC testing

المؤلفون: Shahin, Tala, Mayr, Daniel, Shoeb, Mohamed R., Kuehn, Hye Sun, Hoeger, Birgit, Giuliani, Sarah, Gawriyski, Lisa M., Petronczki, Özlem Yuce, Hadjadj, Jerome, Bal, Sevgi Köstel, Zoghi, Samaneh, Haimel, Matthias, Heredia, Raul Jimenez, Boutboul, David, Triebwasser, Michael P., Rialland-Battisti, Fanny, Chalumeau, Nathalie Costedoat, Quartier, Pierre, Tangye, Stuart G., Fleisher, Thomas A., Rezaei, Nima, Romberg, Neil, Latour, Sylvain, Varjosalo, Markku, Halbritter, Florian, Rieux-Laucat, Frederic, Castanon, Irinka, Rosenzweig, Sergio D., Boztug, Kaan

المساهمون: Institute of Biotechnology, Helsinki Institute of Life Science HiLIFE, Biosciences, Molecular Systems Biology

مصطلحات موضوعية: T-CELLS, HELIOS, IKAROS, EXPRESSION, Biochemistry, cell and molecular biology

وصف الملف: application/pdf

Relation: This study was supported by the European Research Council (ERC) Consolidator Grant iDysChart (ERC grant agreement 820074) (to K.B.); a doctoral fellowship program ("Cell Communication in Health and Disease"; co-financed by the Austrian Science Fund and the Medical University of Vienna) (K.B.); an Austrian Science Fund Hertha Firnberg fellowship (T934-B30) (B.H.); the Intramural Research Program, Clinical Center, US National Institutes of Health (S.D.R.); and the Academy of Finland (288475 and 294173), the Sigrid Juselius Foundation, the Finnish Cancer Institute, and Biocenter Finland (M.V.). F.R.-L. was supported by INSERM and by government grants from the Agence National de la Recherche as part of the Investment for the Future program (ANR10-IAHU-01 and ANR-18-RHUS-0010), the Centre de R~ef~erence D~eficits Immunitaires Hereditaires, the Agence National de la Recherche (ANR-14-CE14-0026-01 and ANR-18-CE17-0001), and the Fondation pour la Recherche Medicale (Equipe FRM EQU202103012670). J.H. was a recipient of an INSERM poste d'accueil program and an Institut Imagine PhD fellowship program supported by the Fondation Bettencourt Schueller.; Shahin , T , Mayr , D , Shoeb , M R , Kuehn , H S , Hoeger , B , Giuliani , S , Gawriyski , L M , Petronczki , Ö Y , Hadjadj , J , Bal , S K , Zoghi , S , Haimel , M , Heredia , R J , Boutboul , D , Triebwasser , M P , Rialland-Battisti , F , Chalumeau , N C , Quartier , P , Tangye , S G , Fleisher , T A , Rezaei , N , Romberg , N , Latour , S , Varjosalo , M , Halbritter , F , Rieux-Laucat , F , Castanon , I , Rosenzweig , S D & Boztug , K 2022 , ' Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation ' , Blood advances , vol. 6 , no. 7 , pp. 2444-2451 . https://doi.org/10.1182/bloodadvances.2021006367; ORCID: /0000-0002-1340-9732/work/114300466; ORCID: /0000-0002-1950-4749/work/114303441; http://hdl.handle.net/10138/344353; b79c034c-c92a-4463-85b5-d1d24d892358; 000794066000008

الاتاحة: http://hdl.handle.net/10138/344353

المؤلفون: Fleisher, Thomas A., Rosenzweig, Sergio D.

المساهمون: Cunha, Cheston B.

المصدر: Schlossberg's Clinical Infectious Disease ; page 545-550 ; ISBN 9780190888367 9780190888398

الاتاحة: https://doi.org/10.1093/med/9780190888367.003.0083

المؤلفون: Tassiulas, Ioannis O., Davis, John C., Fessler, Barri J., Hama, Nobuaki, Fleisher, Thomas A., Austin, Howard A., Boumpas, Dimitrios T.

المصدر: Nucleoside Analogs in Cancer Therapy ; page 383-413 ; ISBN 9781003067634

الاتاحة: http://dx.doi.org/10.1201/9781003067634-14

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

URL الوصول: https://escholarship.org/uc/item/0mk3x8j6

المؤلفون: Shearer, William, Fleisher, Thomas, Buckley, Rebecca, Ballas, Zuhair, Ballow, Mark, Blaese, R, Bonilla, Francisco, Conley, Mary, Cunningham-Rundles, Charlotte, Filipovich, Alexandra, Fuleihan, Ramsay, Gelfand, Erwin, Hernandez-Trujillo, Vivian, Holland, Steven, Hong, Richard, Lederman, Howard, Malech, Harry, Miles, Stephen, Notarangelo, Luigi, Ochs, Hans, Orange, Jordan, Routes, John, Stiehm, E, Sullivan, Kathleen, Torgerson, Troy, Winkelstein, Jerry, Puck, Jennifer

المصدر: Journal of Allergy and Clinical Immunology. 133(4)

مصطلحات موضوعية: Live viral and bacterial vaccines, cellular immune reconstitution, primary immunodeficiency disease, severe combined immunodeficiency disease, Bacterial Infections, Bacterial Vaccines, Child, Child, Preschool, Humans, Immunocompromised Host, Immunologic Deficiency Syndromes, Vaccines, Live, Unattenuated, Viral Vaccines, Virus Diseases

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0427j7x1
https://escholarship.org/content/qt0427j7x1/qt0427j7x1.pdf

المؤلفون: Marciano, Beatriz, Huang, Chiung-Yu, Joshi, Gyan, Rezaei, Nima, Carvalho, Beatriz, Allwood, Zoe, Ikinciogullari, Aydan, Reda, Shereen, Gennery, Andrew, Thon, Vojtech, Espinosa-Rosales, Francisco, Al-Herz, Waleed, Porras, Oscar, Shcherbina, Anna, Szaflarska, Anna, Kiliç, Şebnem, Franco, Jose, Gómez Raccio, Andrea, Roxo, Persio, Esteves, Isabel, Galal, Nermeen, Grumach, Anete, Al-Tamemi, Salem, Yildiran, Alisan, Orellana, Julio, Yamada, Masafumi, Morio, Tomohiro, Liberatore, Diana, Ohtsuka, Yoshitoshi, Lau, Yu-Lung, Nishikomori, Ryuta, Torres-Lozano, Carlos, Mazzucchelli, Juliana, Vilela, Maria, Tavares, Fabiola, Cunha, Luciana, Pinto, Jorge, Espinosa-Padilla, Sara, Hernandez-Nieto, Leticia, Elfeky, Reem, Ariga, Tadashi, Toshio, Heike, Dogu, Figen, Cipe, Funda, Formankova, Renata, Nuñez-Nuñez, M, Bezrodnik, Liliana, Marques, Jose, Pereira, María, Listello, Viviana, Slatter, Mary, Nademi, Zohreh, Kowalczyk, Danuta, Fleisher, Thomas, Davies, Graham, Neven, Bénédicte, Rosenzweig, Sergio

المصدر: Journal of Allergy and Clinical Immunology. 133(4)

مصطلحات موضوعية: BCG, Primary immunodeficiency, hematopoietic stem cell transplant, immune reconstitution syndrome, mycobacteria, newborn screening, severe combined immunodeficiency, vaccine, BCG Vaccine, Child, Preschool, Comorbidity, Female, Hematopoietic Stem Cell Transplantation, Humans, Infant, Infant, Newborn, Kaplan-Meier Estimate, Male, Prevalence, Retrospective Studies, Risk, Severe Combined Immunodeficiency, Vaccination

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4hk9b05q

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

المؤلفون: Shearer, William T, Dunn, Elizabeth, Notarangelo, Luigi D, Dvorak, Christopher C, Puck, Jennifer M, Logan, Brent R, Griffith, Linda M, Kohn, Donald B, O'Reilly, Richard J, Fleisher, Thomas A, Pai, Sung-Yun, Martinez, Caridad A, Buckley, Rebecca H, Cowan, Morton J

المصدر: Journal of Allergy and Clinical Immunology. 133(4)

مصطلحات موضوعية: Medical Biotechnology, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Transplantation, Pediatric, Clinical Research, Good Health and Well Being, Humans, Immunologic Deficiency Syndromes, North America, Practice Guidelines as Topic, Retrospective Studies, Severe Combined Immunodeficiency, Allogeneic hematopoietic cell transplantation, gene therapy, primary immunodeficiency, clinical trial, Immunology, Allergy

URL الوصول: https://escholarship.org/uc/item/2b0864rb

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

المؤلفون: Price, Susan, Shaw, Pamela A, Seitz, Amy, Joshi, Gyan, Davis, Joie, Niemela, Julie E, Perkins, Katie, Hornung, Ronald L, Folio, Les, Rosenberg, Philip S, Puck, Jennifer M, Hsu, Amy P, Lo, Bernice, Pittaluga, Stefania, Jaffe, Elaine S, Fleisher, Thomas A, Rao, V Koneti, Lenardo, Michael J

المصدر: Blood. 123(13)

مصطلحات موضوعية: Cancer, Lymphoma, Brain Disorders, Rare Diseases, Genetics, Clinical Research, Hematology, Autoimmune Disease, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Autoimmune Lymphoproliferative Syndrome, Cell Proliferation, Child, Disease Progression, Female, Follow-Up Studies, Humans, Lymphocytes, Male, Middle Aged, Mutation, Penetrance, Young Adult, fas Receptor, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Paediatrics and Reproductive Medicine, Immunology

URL الوصول: https://escholarship.org/uc/item/1md3485c

المؤلفون: Klangkalya, Natchanun, Fleisher, Thomas A., Rosenzweig, Sergio D.

المصدر: Allergy and Asthma Proceedings ; volume 45, issue 5, page 355-363 ; ISSN 1088-5412

الاتاحة: http://dx.doi.org/10.2500/aap.2024.45.240051
https://www.ingentaconnect.com/content/ocean/aap/2024/00000045/00000005/art00012

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

المؤلفون: Dvorak, Christopher C, Cowan, Morton J, Logan, Brent R, Notarangelo, Luigi D, Griffith, Linda M, Puck, Jennifer M, Kohn, Donald B, Shearer, William T, O'Reilly, Richard J, Fleisher, Thomas A, Pai, Sung-Yun, Hanson, I Celine, Pulsipher, Michael A, Fuleihan, Ramsay, Filipovich, Alexandra, Goldman, Frederick, Kapoor, Neena, Small, Trudy, Smith, Angela, Chan, Ka-Wah, Cuvelier, Geoff, Heimall, Jennifer, Knutsen, Alan, Loechelt, Brett, Moore, Theodore, Buckley, Rebecca H

المصدر: Journal of clinical immunology. 33(7)

مصطلحات موضوعية: Humans, Severe Combined Immunodeficiency, Treatment Outcome, Hematopoietic Stem Cell Transplantation, Survival Analysis, Follow-Up Studies, Prospective Studies, Immunophenotyping, Genotype, Child, Child, Preschool, Infant, Infant, Newborn, Female, Male, Genetic Testing, Biomarkers, Genetics, Clinical Research, Transplantation, Prevention, Pediatric, Rare Diseases, Severe combined immunodeficiency, hematopoietic cell transplantation, newborn screening, Immunology

URL الوصول: https://escholarship.org/uc/item/3r5093m8

المؤلفون: Kuehn, Hye Sun, Niemela, Julie, Stoddard, Jennifer, Ciullini Mannurita, Sara, Shahin, Tala, Goel, Shubham, Hintermeyer, Mary, Jimenez Heredi, Raul, Garofalo, Mary, Lucas, Laura, Singh, Smriti, Tondo, Annalisa, Jacobs, Zachary David, Gahl, William, Latour, Sylvain, Verbsky, James, Routes, John, Cunningham-Rundles, Charlotte, Boztug, Kaan, Gambineri, Eleonora, Fleisher, Thomas, Chandrakasan, Shanmuganathan, Rosenzweig, Sergio

المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)

المصدر: ISSN: 0006-4971.

مصطلحات موضوعية: Primary immunodeficiency, inborn errors of immunity, transcription factors, cancer susceptibility, penetrance, expressivity, infections, [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.IMM.II]Life Sciences [q-bio]/Immunology/Innate immunity

Relation: hal-03065560; https://hal.science/hal-03065560; https://hal.science/hal-03065560/document; https://hal.science/hal-03065560/file/blood.2020007292.pdf

الاتاحة: https://hal.science/hal-03065560
https://hal.science/hal-03065560/document
https://hal.science/hal-03065560/file/blood.2020007292.pdf
https://doi.org/10.1182/blood.2020007292