المؤلفون: Riestra, Maria Rodrigo¹ (AUTHOR), Pillay, Bethany A.¹ (AUTHOR), Willemsen, Mathijs² (AUTHOR), Kienapfel, Verena¹ (AUTHOR), Ehlers, Lisa¹ (AUTHOR), Delafontaine, Selket¹ (AUTHOR), Pinton, Antoine^3,4 (AUTHOR), Wouters, Marjon¹ (AUTHOR), Hombrouck, Anneleen¹ (AUTHOR), Sauer, Kate^5,6 (AUTHOR), Bossuyt, Xavier^7,8 (AUTHOR), Voet, Arnout⁹ (AUTHOR), Soenen, Stefaan J.^10,11 (AUTHOR), Conde, Cecilia Dominguez^12,13 (AUTHOR), Bucciol, Giorgia¹⁴ (AUTHOR), Boztug, Kaan^15,16 (AUTHOR), Humblet-Baron, Stephanie² (AUTHOR), Touzart, Aurore^3,4 (AUTHOR), Rieux-Laucat, Frédéric¹⁷ (AUTHOR), Notarangelo, Luigi D.¹⁸ (AUTHOR)

المصدر: Journal of Clinical Immunology. Jan2024, Vol. 44 Issue 1, p1-13. 13p.

مصطلحات موضوعية: *SEVERE combined immunodeficiency, *DNA polymerases, *HEMATOPOIETIC stem cell transplantation, *GLYCOGEN storage disease type II, *DNA synthesis, *CELL cycle

المؤلفون: Ghosh, Sujal, Köstel Bal, Sevgi, Edwards, Emily, Pillay, Bethany, Jiménez Heredia, Raúl, Erol Cipe, Funda, Rao, Geetha, Salzer, Elisabeth, Zoghi, Samaneh, Abolhassani, Hassan, Momen, Tooba, Gostick, Emma, Price, David, Zhang, Yu, Oler, Andrew, Gonzaga-Jauregui, Claudia, Erman, Baran, Metin, Ayse, Ilhan, Inci, Haskologlu, Sule, Islamoglu, Candan, Baskin, Kubra, Ceylaner, Serdar, Yilmaz, Ebru, Unal, Ekrem, Karakukcu, Musa, Berghuis, Dagmar, Cole, Theresa, Gupta, Aditya, Hauck, Fabian, Kogler, Hubert, Hoepelman, Andy, Baris, Safa, Karakoc-Aydiner, Elif, Ozen, Ahmet, Kager, Leo, Holzinger, Dirk, Paulussen, Michael, Krüger, Renate, Meisel, Roland, Oommen, Prasad, Morris, Emma, Neven, Benedicte, Worth, Austen, van Montfrans, Joris, Fraaij, Pieter, Choo, Sharon, Dogu, Figen, Davies, E. Graham, Burns, Siobhan, Dückers, Gregor, Becker, Ruy Perez, von Bernuth, Horst, Latour, Sylvain, Faraci, Maura, Gattorno, Marco, Su, Helen, Pan-Hammarström, Qiang, Hammarström, Lennart, Lenardo, Michael, Ma, Cindy, Niehues, Tim, Aghamohammadi, Asghar, Rezaei, Nima, Ikinciogullari, Aydan, Tangye, Stuart, Lankester, Arjan, Boztug, Kaan

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: [SDV]Life Sciences [q-bio]

العلاقة: hal-03066024; https://hal.science/hal-03066024Test; https://hal.science/hal-03066024/documentTest; https://hal.science/hal-03066024/file/Blood_cohorts%20CD27%3ACD70.pdfTest

الإتاحة: https://doi.org/10.1182/blood.2020006738Test
https://hal.science/hal-03066024Test
https://hal.science/hal-03066024/documentTest
https://hal.science/hal-03066024/file/Blood_cohorts%20CD27%3ACD70.pdfTest

المؤلفون: Riestra, Maria Rodrigo, Pillay, Bethany A., Willemsen, Mathijs, Kienapfel, Verena, Ehlers, Lisa, Delafontaine, Selket, Pinton, Antoine, Wouters, Marjon, Hombrouck, Anneleen, Sauer, Kate, Bossuyt, Xavier, Voet, Arnout, Soenen, Stefaan J., Conde, Cecilia Dominguez, Bucciol, Giorgia, Boztug, Kaan, Humblet-Baron, Stephanie, Touzart, Aurore, Rieux-Laucat, Frédéric, Notarangelo, Luigi D., Moens, Leen, Meyts, Isabelle

المساهمون: UZ Leuven Klinische Onderzoeksraad, European Society for Immunodeficiencies, Fonds Wetenschappelijk Onderzoek, Onderzoeksraad, KU Leuven

المصدر: Journal of Clinical Immunology ; volume 44, issue 1 ; ISSN 0271-9142 1573-2592

مصطلحات موضوعية: Immunology, Immunology and Allergy

الإتاحة: https://doi.org/10.1007/s10875-023-01627-zTest

المؤلفون: Pillay, Bethany, Avery, Danielle T., Smart, Joanne M., Cole, Theresa, Choo, Sharon, Chan, Damien, Gray, Paul, Mitchell, Richard, Wong, Melanie, Campbell, Dianne E, Hsu, Peter, Ziegler, John B., Peake, Jane, Alvaro, Frank, Picard, Capucine, Bustamante, Jacinta, Neven, Benedicte, Cant, Andrew J., Uzel, Gulbu, Arkwright, Peter, Casanova, Jean-Laurent, Su, Helen C., Freeman, Alexandra, Shah, Nirali, Hickstein, Dennis D, Tangye, Stuart G., Ma, Cindy S.

المصدر: Pillay , B , Avery , D T , Smart , J M , Cole , T , Choo , S , Chan , D , Gray , P , Mitchell , R , Wong , M , Campbell , D E , Hsu , P , Ziegler , J B , Peake , J , Alvaro , F , Picard , C , Bustamante , J , Neven , B , Cant , A J , Uzel , G , Arkwright , P , Casanova , J-L , Su , H C , Freeman , A , Shah ....

مصطلحات موضوعية: ResearchInstitutes_Networks_Beacons/lydia_becker_institute_of_immunology_and_inflammation, Lydia Becker Institute

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1172/jci.insight.127527Test
https://research.manchester.ac.uk/en/publications/77e86522-e246-40bd-a798-a8b11752a88dTest
https://pure.manchester.ac.uk/ws/files/89046161/DOCK8_BMT_function_127527_JCI_RG_1_ms_330026.pdfTest

المؤلفون: Tangye, Stuart G, Bucciol, Giorgia, Casas‐Martin, Jose, Pillay, Bethany, Ma, Cindy S, Moens, Leen, Meyts, Isabelle

المساهمون: Department of Health, New South Wales Government, Fonds Wetenschappelijk Onderzoek, National Health and Medical Research Council, Jeffrey Modell Foundation

المصدر: Immunology & Cell Biology ; volume 97, issue 4, page 389-402 ; ISSN 0818-9641 1440-1711

الإتاحة: https://doi.org/10.1111/imcb.12243Test

المؤلفون: Pillay, Bethany, Fusaro, Mathieu, Gray, Paul, Statham, Aaron, Burnett, Leslie, Bezrodnik, Liliana, Kane, Alisa, Tong, Winnie, Abdo, Chrystelle, Winter, Sarah, Chevalier, Samuel, Levy, Romain, Masson, Cécile, Schmitt, Yohann, Bole, Christine, Malphettes, Marion, Macintyre, Elizabeth, de Villartay, Jean-Pierre, Ziegler, John, Smart, Joanne, Peake, Jane, Aghamohammadi, Asghar, Hammarström, Lennart, Abolhassani, Hassan, Picard, Capucine, Fischer, Alain, Latour, Sylvain, Neven, Benedicte, Tangye, Stuart, Ma, Cindy

المساهمون: Garvan Institute of medical research, University of New South Wales Sydney (UNSW), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Sydney Children's hospital, School of Women's and Children's Health, Ricardo Gutierrez Children's Hospital, Partenaires INRAE, South Western Sydney Clinical School Liverpool, Australia (Faculty of Medicine), St. Vincent's Hospital, Sydney, Liverpool hospital Sydney, Institut Necker Enfants-Malades (INEM - UM 111 (UMR 8253 / U1151)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Structure Fédérative de Recherche Necker (UAR 3633 / US24), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Hopital Saint-Louis AP-HP (AP-HP), Royal Alexandra Children's Hospital, The University of Queensland (UQ All campuses : Brisbane, Dutton Park Gatton, Herston, St Lucia and other locations ), Tehran University of Medical Sciences (TUMS), Karolinska Institutet Stockholm, Collège de France (CdF (institution)), ANR-15-RAR3-0014,EuroCID,Non-SCID combined immunodeficiencies- a diagnostic and therapeutic challenge(2015)

المصدر: ISSN: 0021-9738 ; Journal of Clinical Investigation ; https://hal.science/hal-03442954Test ; Journal of Clinical Investigation, 2021, 131 (3), ⟨10.1172/JCI142434⟩.

مصطلحات موضوعية: β cells, Adaptive immunity, Immunology, Infectious disease, T cells, [SDV]Life Sciences [q-bio]

العلاقة: hal-03442954; https://hal.science/hal-03442954Test; PUBMEDCENTRAL: PMC7843233

الإتاحة: https://doi.org/10.1172/JCI142434Test
https://hal.science/hal-03442954Test

المؤلفون: Tangye, Stuart G., Gray, Paul E., Pillay, Bethany A., Yap, Jin Yan, Figgett, William A., Reeves, John, Kummerfeld, Sarah K., Stoddard, Jennifer, Uzel, Gulbu, Jing, Huie, Su, Helen C., Campbell, Dianne E., Sullivan, Anna, Burnett, Leslie, Peake, Jane, Ma, Cindy S.

المساهمون: national health and medical research council

المصدر: Journal of Clinical Immunology ; volume 42, issue 1, page 119-129 ; ISSN 0271-9142 1573-2592

مصطلحات موضوعية: Immunology, Immunology and Allergy

الإتاحة: https://doi.org/10.1007/s10875-021-01152-xTest

المؤلفون: Edwards, Emily S. J., Ma, Cindy S., Lenardo, Michael J., Hammarstroem, Lennart, Pan-Hammarstroem, Qiang, Su, Helen C., Gattorno, Marco, Faraci, Maura, Latour, Sylvain, von Bernuth, Horst, Becker, Ruy Perez, Duckers, Gregor, Burns, Siobhan, Davies, E. Graham, Dogu, Figen, Choo, Sharon, Fraaij, Pieter L. A., van Montfrans, Joris, Worth, Austen, Neven, Benedicte, Morris, Emma, Oommen, Prasad T., Meisel, Roland, Krueger, Renate, Paulussen, Michael, Holzinger, Dirk, Tangye, Stuart G., Lankester, Arjan C., Boztug, Kaan, Price, David A., Gostick, Emma, Momen, Tooba, Abolhassani, Hassan, Zoghi, Samaneh, Salzer, Elisabeth, Rao, Geetha, Cipe, Funda Erol, Heredia, Raul Jimenez, Pillay, Bethany, Niehues, Tim, Bal, Sevgi Koestel, Ghosh, Sujal, Ikinciogullari, Aydan, Rezaei, Nima, Aghamohammadi, Asghar, Kager, Leo, Ozen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Hoepelman, Andy I. M., Kogler, Hubert, Hauck, Fabian, Gupta, Aditya K., Cole, Theresa, Berghuis, Dagmar, Karakukcu, Musa, Unal, Ekrem, Yilmaz, Ebru, Ceylaner, Serdar, Baskin, Kubra, Islamoglu, Candan, Haskologlu, Sule, Ilhan, Inci, Metin, Ayse, Erman, Baran, Gonzaga-Jauregui, Claudia, Oler, Andrew J., Zhang, Yu

العلاقة: 580d47d7-034f-4590-a10d-8da7832cf07b; https://avesis.gazi.edu.tr/publication/details/580d47d7-034f-4590-a10d-8da7832cf07b/oaiTest

الإتاحة: https://doi.org/10.1182/blood.2020006738Test
https://avesis.gazi.edu.tr/publication/details/580d47d7-034f-4590-a10d-8da7832cf07b/oaiTest

المؤلفون: Baskin, Kubra, Lenardo, Michael J., Hammarstroem, Lennart, Pan-Hammarstroem, Qiang, Su, Helen C., Gattorno, Marco, Faraci, Maura, Latour, Sylvain, von Bernuth, Horst, Becker, Ruy Perez, Duckers, Gregor, Burns, Siobhan, Davies, E. Graham, Dogu, Figen, Choo, Sharon, Fraaij, Pieter L. A., van Montfrans, Joris, Worth, Austen, Neven, Benedicte, Morris, Emma, Oommen, Prasad T., Meisel, Roland, Krueger, Renate, Paulussen, Michael, Holzinger, Dirk, Kager, Leo, Ozen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Hoepelman, Andy I. M., Kogler, Hubert, Hauck, Fabian, Gupta, Aditya K., Cole, Theresa, Berghuis, Dagmar, Karakukcu, MUSA, ÖZEN, AHMET OĞUZHAN, Yilmaz, Ebru, Ceylaner, Serdar, Ma, Cindy S., Islamoglu, Candan, Haskologlu, Sule, Ilhan, Inci, Metin, Ayse, Erman, Baran, Gonzaga-Jauregui, Claudia, Oler, Andrew J., Zhang, Yu, Price, David A., Gostick, Emma, Momen, Tooba, Abolhassani, Hassan, Zoghi, Samaneh, Pillay, Bethany, Edwards, Emily S. J., Rezaei, Nima, Boztug, Kaan, Lankester, Arjan C., Tangye, Stuart G., Ikinciogullari, Aydan, Aghamohammadi, Asghar, Niehues, Tim

العلاقة: 580d47d7-034f-4590-a10d-8da7832cf07b; https://avesis.erciyes.edu.tr/publication/details/580d47d7-034f-4590-a10d-8da7832cf07b/oaiTest

الإتاحة: https://doi.org/10.1182/blood.2020006738Test
https://avesis.erciyes.edu.tr/publication/details/580d47d7-034f-4590-a10d-8da7832cf07b/oaiTest

المؤلفون: Bucciol, Giorgia, Pillay, Bethany, Casas-Martin, Jose, Delafontaine, Selket, Proesmans, Marijke, Lorent, Natalie, Coolen, Johan, Tousseyn, Thomas, Bossuyt, Xavier, Ma, Cindy S., Schrijvers, Rik, Tangye, Stuart G., Moens, Leen, Meyts, Isabelle

المساهمون: Fonds Wetenschappelijk Onderzoek

المصدر: Journal of Clinical Immunology ; volume 40, issue 4, page 567-570 ; ISSN 0271-9142 1573-2592

مصطلحات موضوعية: Immunology, Immunology and Allergy

الإتاحة: https://doi.org/10.1007/s10875-020-00742-5Test