المؤلفون: Yu, David, Miller, Corey, Feng, Yi, Guichard, Audrey, Béziat, Vivien, Bustamante, Jacinta, Pan-Hammarström, Qiang, Zhang, Yu, Rosen, Lindsey, Holland, Steve, Bosticardo, Marita, Kenney, Heather, Castagnoli, Riccardo, Slade, Charlotte, Boztuğ, Kaan, Mahlaoui, Nizar, Latour, Sylvain, Abraham, Roshini, Lougaris, Vassilios, Hauck, Fabian, Sediva, Anna, Atschekzei, Faranaz, Sogkas, Georgios, Poli, M, Slatter, Mary, Palterer, Boaz, Keller, Michael, Pinzon-Charry, Alberto, Sullivan, Anna, Droney, Luke, Suan, Daniel, Wong, Melanie, Kane, Alisa, Hu, Hannah, Ma, Cindy, Grombiříková, Hana, Ciznar, Peter, Dalal, Ilan, Aladjidi, Nathalie, Hie, Miguel, Lazaro, Estibaliz, Franco, Jose, Keles, Sevgi, Malphettes, Marion, Pasquet, Marlene, Maccari, Maria, Meinhardt, Andrea, Ikinciogullari, Aydan, Shahrooei, Mohammad, Celmeli, Fatih, Frosk, Patrick, Goodnow, Christopher, Gray, Paul, Belot, Alexandre, Kuehn, Hye, Rosenzweig, Sergio, Miyara, Makoto, Licciardi, Francesco, Servettaz, Amélie, Barlogis, Vincent, Le Guenno, Guillaume, Herrmann, Vera-Maria, Kuijpers, Taco, Ducoux, Grégoire, Sarrot-Reynauld, Françoise, Schuetz, Catharina, Cunningham-Rundles, Charlotte, Rieux-Laucat, Frédéric, Tangye, Stuart, Sobacchi, Cristina, Doffinger, Rainer, Warnatz, Klaus, Grimbacher, Bodo, Fieschi, Claire, Berteloot, Laureline, Bryant, Vanessa, Trouillet Assant, Sophie, Su, Helen, Neven, Benedicte, Abel, Laurent, Zhang, Qian, Boisson, Bertrand, Cobat, Aurélie, Jouanguy, Emmanuelle, Kampe, Olle, Bastard, Paul, Roifman, Chaim, Landegren, Nils, Notarangelo, Luigi, Le Voyer, Tom, Parent, Audrey, Liu, Xian, Cederholm, Axel, Gervais, Adrian, Rosain, Jérémie, Nguyen, Tina, Perez Lorenzo, Malena, Rackaityte, Elze, Rinchai, Darawan, Zhang, Peng

المصدر: Nature. 623(7988)

مصطلحات موضوعية: Humans, Autoantibodies, COVID-19, Gain of Function Mutation, Genetic Predisposition to Disease, Heterozygote, I-kappa B Proteins, Interferon Type I, Loss of Function Mutation, NF-kappa B, NF-kappa B p52 Subunit, Pneumonia, Viral, Thymus Gland, Thyroid Epithelial Cells

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6w33j3whTest

المؤلفون: Le Voyer, Tom, Parent, Audrey V., Liu, Xian, Cederholm, Axel, Gervais, Adrian, Rosain, Jeremie, Nguyen, Tina, Lorenzo, Malena Perez, Rackaityte, Elze, Rinchai, Darawan, Zhang, Peng, Bizien, Lucy, Hancioglu, Gonca, Ghillani-Dalbin, Pascale, Charuel, Jean-Luc, Philippot, Quentin, Gueye, Mame Sokhna, Renkilaraj, Majistor Raj Luxman Maglorius, Ogishi, Masato, Soudee, Camille, Migaud, Melanie, Rozenberg, Flore, Momenilandi, Mana, Riller, Quentin, Imberti, Luisa, Delmonte, Ottavia M., Mueller, Gabriele, Keller, Baerbel, Orrego, Julio, Gallego, William Alexander Franco, Rubin, Tamar, Emiroglu, Melike, Parvaneh, Nima, Eriksson, Daniel, Aranda-Guillen, Maribel, Berrios, David I., Vong, Linda, Katelaris, Constance H., Mustillo, Peter, Raedler, Johannes, Bohlen, Jonathan, Celik, Jale Bengi, Astudillo, Camila, Winter, Sarah, McLean, Catriona, Guffroy, Aurelien, DeRisi, Joseph L., Yu, David, Miller, Corey, Feng, Yi, Guichard, Audrey, Beziat, Vivien, Bustamante, Jacinta, Pan-Hammarstrom, Qiang, Zhang, Yu, Rosen, Lindsey B., Holland, Steve M., Bosticardo, Marita, Kenney, Heather, Castagnoli, Riccardo, Slade, Charlotte A., Boztug, Kaan, Mahlaoui, Nizar, Latour, Sylvain, Abraham, Roshini S., Lougaris, Vassilios, Hauck, Fabian, Sediva, Anna, Atschekzei, Faranaz, Sogkas, Georgios, Poli, M. Cecilia, Slatter, Mary A., Palterer, Boaz, Keller, Michael D., Pinzon-Charry, Alberto, Sullivan, Anna, Droney, Luke, Suan, Daniel, Wong, Melanie, Kane, Alisa, Hu, Hannah, Ma, Cindy, Grombirikova, Hana, Ciznar, Peter, Dalal, Ilan, Aladjidi, Nathalie, Hie, Miguel, Lazaro, Estibaliz, Franco, Jose, Keles, Sevgi, Malphettes, Marion, Pasquet, Marlene, Maccari, Maria Elena, Meinhardt, Andrea, Ikinciogullari, Aydan, Shahrooei, Mohammad, Celmeli, Fatih, Frosk, Patrick, Goodnow, Christopher C., Gray, Paul E., Belot, Alexandre, Kuehn, Hye Sun, Rosenzweig, Sergio D., Miyara, Makoto, Licciardi, Francesco, Servettaz, Amelie, Barlogis, Vincent, Le Guenno, Guillaume, Herrmann, Vera-Maria, Kuijpers, Taco, Ducoux, Gregoire, Sarrot-Reynauld, Francoise, Schuetz, Catharina, Cunningham-Rundles, Charlotte, Rieux-Laucat, Frederic, Tangye, Stuart G., Sobacchi, Cristina, Doffinger, Rainer, Warnatz, Klaus, Grimbacher, Bodo, Fieschi, Claire, Berteloot, Laureline, Bryant, Vanessa L., Assant, Sophie Trouillet, Su, Helen, Neven, Benedicte, Abel, Laurent, Zhang, Qian, Boisson, Bertrand, Cobat, Aurelie, Jouanguy, Emmanuelle, Kampe, Olle, Bastard, Paul, Roifman, Chaim M., Landegren, Nils, 1986, Notarangelo, Luigi D., Anderson, Mark S., Casanova, Jean-Laurent, Puel, Anne

المصدر: Nature. 623(7988):803-813

وصف الملف: electronic

الوصول الحر: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-525531Test
https://doi.org/10.1038/s41586-023-06717-xTest
https://uu.diva-portal.org/smash/get/diva2:1846552/FULLTEXT01.pdfTest

المؤلفون: Lum, Su Han, James, Beki, Ottaviano, Giorgio, Ewins, Anna-Maria, Patrick, Katharine, Ali, Salah, Carpenter, Ben, Silva, Juliana, Tewari, Sanjay, Furness, Caroline, Thomas, Arun, Shenton, Geoff, Bonney, Denise, Moppett, John, Hambleton, Sophie, Gennery, Andrew R, Amrolia, Persis, Gibson, Brenda, Hough, Rachael, Rao, Kanchan, Slatter, Mary, Wynn, Robert

المصدر: Transplantation and Cellular Therapy ; volume 30, issue 3, page 314.e1-314.e12 ; ISSN 2666-6367

مصطلحات موضوعية: Transplantation, Cell Biology, Hematology, Molecular Medicine, Immunology and Allergy

الإتاحة: https://doi.org/10.1016/j.jtct.2023.12.005Test
https://api.elsevier.com/content/article/PII:S2666636723017177?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2666636723017177?httpAccept=text/plainTest

المؤلفون: Dimitrova, Dimana, Nademi, Zohreh, Maccari, Maria Elena, Ehl, Stephan, Uzel, Gulbu, Tomoda, Takahiro, Okano, Tsubasa, Imai, Kohsuke, Carpenter, Benjamin, Ip, Winnie, Rao, Kanchan, Worth, Austen JJ, Laberko, Alexandra, Mukhina, Anna, Néven, Bénédicte, Moshous, Despina, Speckmann, Carsten, Warnatz, Klaus, Wehr, Claudia, Abolhassani, Hassan, Aghamohammadi, Asghar, Bleesing, Jacob J, Dara, Jasmeen, Dvorak, Christopher C, Ghosh, Sujal, Kang, Hyoung Jin, Markelj, Gašper, Modi, Arunkumar, Bayer, Diana K, Notarangelo, Luigi D, Schulz, Ansgar, Garcia-Prat, Marina, Soler-Palacín, Pere, Karakükcü, Musa, Yilmaz, Ebru, Gambineri, Eleonora, Menconi, Mariacristina, Masmas, Tania N, Holm, Mette, Bonfim, Carmem, Prando, Carolina, Hughes, Stephen, Jolles, Stephen, Morris, Emma C, Kapoor, Neena, Koltan, Sylwia, Paneesha, Shankara, Steward, Colin, Wynn, Robert, Duffner, Ulrich, Gennery, Andrew R, Lankester, Arjan C, Slatter, Mary, Kanakry, Jennifer A

المصدر: The Journal of allergy and clinical immunology. 149(1)

مصطلحات موضوعية: Humans, Treatment Outcome, Hematopoietic Stem Cell Transplantation, Transplantation, Homologous, Retrospective Studies, Graft Rejection, Adolescent, Adult, Aged, Middle Aged, Child, Child, Preschool, Female, Male, Young Adult, Phosphatidylinositol 3-Kinases, Kaplan-Meier Estimate, Class I Phosphatidylinositol 3-Kinases, Primary Immunodeficiency Diseases, MTOR Inhibitors, Primary immunodeficiency, activated phosphoinositide 3-kinase delta syndrome, allogeneic hematopoietic cell transplantation, graft failure, lymphoproliferation, mTOR inhibitor, serotherapy, Rare Diseases, Cancer, Transplantation, Regenerative Medicine, Hematology, allogeneic hemato-poietic cell transplantation, Immunology, Allergy

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/0tg6t5s5Test

المؤلفون: Slatter, Mary Anne

الوصول الحر: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.843722Test

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: Schuetz, Catharina, Gerke, Julia, Ege, Markus Johannes, Walter, Jolan Eszter, Kusters, Maaike, Worth, Austen JJ, Kanakry, Jennifer A, Dimitrova, Dimana, Wolska-Kusnierz, Beata, Chen, Karin, Unal, Ekrem, Karakukcu, Musa, Pashchenko, Olga, Leiding, Jennifer W, Kawai, Tomoki, Amrolia, Persis Jal, Berghuis, Dagmar, Buechner, Jochen, Buchbinder, David, Cowan, Morton J, Gennery, Andrew R, Güngör, Tayfun, Heimall, Jennifer R, Miano, Maurizio, Meyts, Isabelle, Morris, Emma C, Rivière, Jacques G, Sharapova, Svetlana O, Shaw, Peter J, Slatter, Mary A, Honig, Manfred, Veys, Paul, Fischer, Alain, Cavazzana, Marina, Moshous, Despina, Schulz, Ansgar S, Albert, Michael H, Puck, Jennifer M, Lankester, Arjan C, Notarangelo, Luigi D, Neven, Bénédicte

المصدر: Blood , 141 (7) pp. 713-724. (2023)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10158338/1/blood.2022017667.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10158338Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10158338/1/blood.2022017667.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10158338Test/

المؤلفون: Maccari, Maria Elena, Wolkewitz, Martin, Schwab, Charlotte, Lorenzini, Tiziana, Leiding, Jennifer W, Aladjdi, Nathalie, Abolhassani, Hassan, Abou-Chahla, Wadih, Aiuti, Alessandro, Azarnoush, Saba, Baris, Safa, Barlogis, Vincent, Barzaghi, Federica, Baumann, Ulrich, Bloomfield, Marketa, Bohynikova, Nadezda, Bodet, Damien, Boutboul, David, Bucciol, Giorgia, Buckland, Matthew S, Burns, Siobhan O, Cancrini, Caterina, Cathébras, Pascal, Cavazzana, Marina, Cheminant, Morgane, Chinello, Matteo, Ciznar, Peter, Coulter, Tanya I, D'Aveni, Maud, Ekwall, Olov, Eric, Zelimir, Eren, Efrem, Fasth, Anders, Frange, Pierre, Fournier, Benjamin, Garcia-Prat, Marina, Gardembas, Martine, Geier, Christoph, Ghosh, Sujal, Goda, Vera, Hammarstrom, Lennart, Hauck, Fabian, Heeg, Maximilian, Heropolitanska-Pliszka, Edyta, Hilfanova, Anna, Jolles, Stephen, Karakoc-Aydiner, Elif, Kindle, Gerhard R, Klemann, Christian, Koletsi, Patra, Koltan, Sylwia, Kondratenko, Irina, Körholz, Julia, Krüger, Renate, Jeziorski, Eric, Levy, Romain, Le Guenno, Guillaume, Lefevre, Guillaume, Lougaris, Vassilios, Marzollo, Antonio, Mahlaoui, Nizar, Malphettes, Marion, Meinhardt, Andrea, Merlin, Etienne, Meyts, Isabelle, Milota, Tomas, Moreira, Fernando, Moshous, Despina, Mukhina, Anna, Neth, Olaf, Neubert, Jennifer, Neven, Benedicte, Nieters, Alexandra, Nove-Josserand, Raphaele, Oksenhendler, Eric, Ozen, Ahmet, Olbrich, Peter, Perlat, Antoinette, Pac, Malgorzata, Schmid, Jana Pachlopnik, Pacillo, Lucia, Parra-Martinez, Alba, Paschenko, Olga, Pellier, Isabelle, Sefer, Asena Pinar, Plebani, Alessandro, Plantaz, Dominique, Prader, Seraina, Raffray, Loic, Ritterbusch, Henrike, Riviere, Jacques G, Rivalta, Beatrice, Rusch, Stephan, Sakovich, Inga, Savic, Sinisa, Scheible, Raphael, Schleinitz, Nicolas, Schuetz, Catharina, Schulz, Ansgar, Sediva, Anna, Semeraro, Michaela, Sharapova, Svetlana O, Shcherbina, Anna, Slatter, Mary A, Sogkas, Georgios, Soler-Palacin, Pere, Speckmann, Carsten, Stephan, Jean-Louis, Suarez, Felipe, Tommasini, Alberto, Trück, Johannes, Uhlmann, Annette, van Aerde, Koen J, van Montfrans, Joris, von Bernuth, Horst, Warnatz, Klaus, Williams, Tony, Worth, Austen Jj, Ip, Winnie, Picard, Capucine, Catherinot, Emilie, Nademi, Zohreh, Grimbacher, Bodo, Forbes Satter, Lisa R, Kracker, Sven, Chandra, Anita, Condliffe, Alison M, Ehl, Stephan, European Society for Immunodeficiencies Registry Working, Party

المصدر: Journal of Allergy and Clinical Immunology , 152 (4) 984-996.e10. (2023)

مصطلحات موضوعية: APDS, CTLA-4, ESID, IEI, NFκB1, PI3K, PIK3CD, PIK3R1, STAT3, immunodeficiency

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10174724/1/revisedAPDSManuscript_clean.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10174724Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10174724/1/revisedAPDSManuscript_clean.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10174724Test/

المؤلفون: Tsilifis, Christo, Torppa, Tuulia, Williams, Eleri J., Albert, Michael H., Hauck, Fabian, Soncini, Elena, Kang, Elizabeth, Malech, Harry, Schuetz, Catharina, von Bernuth, Horst, Slatter, Mary A., Gennery, Andrew R.

المساهمون: Division of Intramural Research, National Institute of Allergy and Infectious Diseases

المصدر: Journal of Clinical Immunology ; volume 43, issue 8, page 1964-1973 ; ISSN 0271-9142 1573-2592

مصطلحات موضوعية: Immunology, Immunology and Allergy

الإتاحة: https://doi.org/10.1007/s10875-023-01570-zTest

المؤلفون: Singanayagam, Anika, Klapsa, Dimitra, Burton-Fanning, Shirelle, Hand, Julian, Wilton, Thomas, Stephens, Laura, Mate, Ryan, Shillitoe, Benjamin, Celma, Cristina, Slatter, Mary, Flood, Terry, Gopal, Robin, Martin, Javier, Zambon, Maria

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

مصطلحات موضوعية: General Physics and Astronomy, General Biochemistry, Genetics and Molecular Biology, General Chemistry, Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41467-023-39094-0Test
https://www.nature.com/articles/s41467-023-39094-0.pdfTest
https://www.nature.com/articles/s41467-023-39094-0Test