المؤلفون: Bitar, Michael, Boettcher, Marcus, Boldt, Andreas, Hauck, Fabian, Köhl, Ulrike, Liebert, Uwe G., Magg, Thomas, Schulz, Marian S., Sack, Ulrich

مصطلحات موضوعية: CMV T cell proliferation, CMV-specific T cells, flow cytometry, STAT5 phosphorylation, T cell activation, info:eu-repo/classification/ddc/570, ddc:570

الاتاحة: https://ul.qucosa.de/id/qucosa%3A85751
https://ul.qucosa.de/api/qucosa%3A85751/attachment/ATT-0/

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

URL الوصول: https://escholarship.org/uc/item/6w33j3wh
https://escholarship.org/content/qt6w33j3wh/qt6w33j3wh.pdf

المؤلفون: Israni, Muskan, Alderson, Eliska, Mahlaoui, Nizar, Obici, Laura, Rossi-Semerano, Linda, Lachmann, Helen, Avramovič, Mojca Zajc, Guffroy, Aurelien, Dalm, Virgil, Rimmer, Rachel, Solis, Leire, Villar, Carlota, Gennery, Andrew R., Skeffington, Stephanie, Nordin, Julia, Warnatz, Klaus, Korganow, Anne Sophie, Antón, Jordi, Cattalini, Marco, Berg, Stefan, Soler-Palacín, Pere, Campbell, Mari, Burns, Siobhan O., Neven, Bénédicte, Carrabba, Maria, Pergent, Martine, Jandus, Peter, Velcheva, Margarita, Pac, Malgorzata, Haerynck, Filomeen, Meyts, Isabelle, Hauck, Fabian, Sediva, Anna, Gardulf, Ann, Hayward, Georgia, Amin, Tania, Dehoorne, Joke, Neth, Olaf, Masmas, Tania Nicole, Katzenstein, Terese, da Silva, Susana Lopes, Marquart, Hanne, Hentgen, Véronique, Fabio, Giovanna, von Bernuth, Horst, Herlin, Troels, Brogan, Paul, Folkers, Marina, Fritsch-Stork, Ruth

المصدر: Israni , M , Alderson , E , Mahlaoui , N , on behalf of the ESID Clinical Working Party , the ERN RITA Transition Working Group Consortium , Obici , L , Rossi-Semerano , L , Lachmann , H , Avramovič , M Z , Guffroy , A , Dalm , V , Rimmer , R , Solis , L , Villar , C , Gennery , A R , Skeffington , S , Nordin , J , Warnatz , K , Korganow , A S , Antón , J , Cattalini , M , Berg , S ....

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/c2cbc9fb-d6c3-43b5-a12c-2720596f188a
https://doi.org/10.1007/s10875-024-01838-y
https://pure.eur.nl/ws/files/180273097/s10875-024-01838-y.pdf
http://www.scopus.com/inward/record.url?scp=85212684844&partnerID=8YFLogxK

المؤلفون: García-García, Ana, Pérez de Diego, Rebeca, Flores, Carlos, Rinchai, Darawan, Solé-Violán, Jordi, Deyà-Martínez, Àngela, García-Solis, Blanca, Lorenzo-Salazar, José, Hernández-Brito, Elisa, Lanz, Anna-Lisa, Moens, Leen, Bucciol, Giorgia, Almuqamam, Mohamed, Domachowske, Joseph, Colino, Elena, Santos-Perez, Juan, Marco, Francisco, Pignata, Claudio, Bousfiha, Aziz, Turvey, Stuart, Bauer, Stefanie, Haerynck, Filomeen, Ocejo-Vinyals, Javier, Lendinez, Francisco, Prader, Seraina, Naumann-Bartsch, Nora, Pachlopnik Schmid, Jana, Biggs, Catherine, Hildebrand, Kyla, Dreesman, Alexandra, Cárdenes, Miguel, Ailal, Fatima, Benhsaien, Ibtihal, Giardino, Giuliana, Molina-Fuentes, Agueda, Fortuny, Claudia, Madhavarapu, Swetha, Conway, Daniel, Prando, Carolina, Schidlowski, Laire, Martínez de Saavedra Álvarez, María, Alfaro, Rafael, Rodríguez de Castro, Felipe, Meyts, Isabelle, Hauck, Fabian, Puel, Anne, Bastard, Paul, Boisson, Bertrand, Jouanguy, Emmanuelle, Abel, Laurent, Cobat, Aurélie, Zhang, Qian, Casanova, Jean-Laurent, Alsina, Laia, Rodríguez-Gallego, Carlos

المصدر: Journal of Experimental Medicine. 220(5)

مصطلحات موضوعية: Child, Humans, Adaptor Proteins, Signal Transducing, COVID-19, Myeloid Differentiation Factor 88, SARS-CoV-2, Toll-Like Receptor 7

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0tw8q4qs
https://escholarship.org/content/qt0tw8q4qs/qt0tw8q4qs.pdf

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

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

المؤلفون: Kreins, Alexandra Y., Dhalla, Fatima, Flinn, Aisling M., Howley, Evey, Ekwall, Olov, Villa, Anna, Staal, Frank J.T., Anderson, Graham, Gennery, Andrew R., Holländer, Georg A., Davies, E. Graham, Burns, Siobhan O., Carrabba, Maria, Gardulf, Ann, Haerynck, Filomeen, Hauck, Fabian, Jandus, Peter, Meyts, Isabelle, Klocperk, Adam, Neven, Bénédicte, Pac, Malgorzata, Pergent, Martine, Sediva, Anna, Soler-Palacín, Pere, Velcheva, Margarita, Warnatz, Klaus

المساهمون: Swedish Research Council, UKRI MRC, Wellcome Trust, Horizon Europe

المصدر: Journal of Allergy and Clinical Immunology ; volume 154, issue 6, page 1391-1408 ; ISSN 0091-6749

الاتاحة: https://doi.org/10.1016/j.jaci.2024.07.031
https://api.elsevier.com/content/article/PII:S0091674924009801?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0091674924009801?httpAccept=text/plain

المؤلفون: Lanz, Anna-Lisa, Erdem, Serife, Ozcan, Alper, Ceylaner, Gulay, Cansever, Murat, Ceylaner, Serdar, Conca, Raffaele, Magg, Thomas, Acuto, Oreste, Latour, Sylvain, Klein, Christoph, Patiroglu, Turkan, Unal, Ekrem, Eken, Ahmet, Hauck, Fabian

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

الاتاحة: https://doi.org/10.1007/s10875-024-01654-4
https://link.springer.com/content/pdf/10.1007/s10875-024-01654-4.pdf
https://link.springer.com/article/10.1007/s10875-024-01654-4/fulltext.html

المؤلفون: Howley, Evey, Golwala, Zainab, Buckland, Matthew, Barzaghi, Federica, Ghosh, Sujal, Hackett, Scott, Hague, Rosie, Hauck, Fabian, Holzer, Ursula, Klocperk, Adam, Koskenvuo, Minna, Marcus, Nufar, Marzollo, Antonio, Pac, Malgorzata, Sinclair, Jan, Speckmann, Carsten, Soomann, Maarja, Speirs, Lynne, Suresh, Sneha, Taque, Sophie, van Montfrans, Joris, von Bernuth, Horst, Wainstein, Brynn K, Worth, Austen, Davies, E Graham, Kreins, Alexandra Y

المصدر: Howley, Evey; Golwala, Zainab; Buckland, Matthew; Barzaghi, Federica; Ghosh, Sujal; Hackett, Scott; Hague, Rosie; Hauck, Fabian; Holzer, Ursula; Klocperk, Adam; Koskenvuo, Minna; Marcus, Nufar; Marzollo, Antonio; Pac, Malgorzata; Sinclair, Jan; Speckmann, Carsten; Soomann, Maarja; Speirs, Lynne; Suresh, Sneha; Taque, Sophie; van Montfrans, Joris; von Bernuth, Horst; Wainstein, Brynn K; Worth, Austen; Davies, E Graham; Kreins, Alexandra Y (2024). Impact of newborn screening for SCID on the management of congenital athymia. Journal of Allergy and Clinical Immunology, 153(1):330-334.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health, Immunology, Immunology and Allergy

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/254400/1/1_s2.0_S0091674923011144_main.pdf; info:pmid/37678573; urn:issn:0091-6749

الاتاحة: https://www.zora.uzh.ch/id/eprint/254400/
https://www.zora.uzh.ch/id/eprint/254400/1/1_s2.0_S0091674923011144_main.pdf
https://doi.org/10.1016/j.jaci.2023.08.031

المؤلفون: Nurmi, Anna Katariina, Silventoinen, Kristiina, Keskitalo, Salla, Rajamäki, Kristiina, Kouri, Vesa-Petteri, Kinnunen, Matias, Jalil, Sami, Sartori-Maldonado , Rocio, Wartiovaara, Kirmo, Nievas, Elma Inés, Denita-Juárez, Silvina Paola, Duncan, Christopher J.A, Kuismin, Outi, Saarela, Janna, Romo, Inka, Martelius, Timi, Parantainen, Jukka T, Beklen, Arzu, Bilicka, Marcelina, Matikainen, Sampsa, Nordström, Dan C., Kaustio, Meri, Wartiovaara-Kautto, Ulla, Kilpivaara, Outi, Klein, Christoph, Hauck, Fabian, Jahkola, Tiina, Hautala, Timo, Varjosalo, Markku, Barreto, Goncalo, Seppänen, Mikko R. J., Eklund, Kari K.

المساهمون: TRIMM - Translational Immunology Research Program, Clinicum, HUS Helsinki and Uusimaa Hospital District, Institute of Biotechnology, Molecular Systems Biology, Digital Precision Cancer Medicine (iCAN), Helsinki Institute of Life Science HiLIFE, Faculty Common Matters (Faculty of Medicine), ATG - Applied Tumor Genomics, HUS Internal Medicine and Rehabilitation, Department of Medical and Clinical Genetics, HUSLAB, Centre of Excellence in Stem Cell Metabolism, Medicum, Janna Saarela / Principal Investigator, Institute for Molecular Medicine Finland, Infektiosairauksien yksikkö, HUS Inflammation Center, Department of Medicine, Research Programs Unit, HUS Comprehensive Cancer Center, Hematologian yksikkö, HUS Diagnostic Center, HUS Musculoskeletal and Plastic Surgery, Department of Surgery, Plastiikkakirurgian yksikkö, Children's Hospital, HUS Children and Adolescents, Reumatologian yksikkö

مصطلحات موضوعية: General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

Relation: This study was supported by grants from the Jane and Aatos Erkko Foundation (6347-6aed0 to K.K.E.); the Academy of Finland (322638 to K.K.E.); the Yrjo Jahnsson Foundation (20217434 and 20207306 to K.N.); the Pal ivikki and Sakari Sohlberg Foundation (K.N.); Finska Lalkaresalllskapet (K.K.E., D.C.N.); the Maud Kuistila Memorial Foundation (2020-0312C to K.N.); the Orion Research Foundation sr (K.S.); The Finnish Medical Foundation sr (K.S.); the Maire Lisko Foundation (K.R., K.N., K.S.); The Research Foundation of Rheumatic Diseases (K.R., K.N.); the Paulo Foundation (K.R.); the Stockmann's Foundation (K.K.E.); the Sigrid Juselius Foundation; Finnish Foundation for Pediatric Research and Pediatric Research Center, Helsinki University Hospital (M.R.J.S.); the Care-for-Rare Foundation (C4R, 160073 to F.H.); Else Kroner-Fresenius Stiftung (EKFS, 2017_A110 to F.H.); and the German Federal Ministry of Education and Research (BMBF, 01GM1910C to F.H.) . C.J.A.D. was funded by a Wellcome Clinical Research Career Development Fellowship (211153/Z/18/Z) and UK Medical Research Council Clinician Scientist Fellowship (MRX001598/1) . We are grateful to the following projects and research service core facilities: the Genomics of Rare Immune Disorders (GRID) Project for diagnostic testing in patient F6.II-1, the Institute of Molecular Medicine Finland Technology Center, the UH Biomedicum Imaging Unit, the UH Bio-medicum Flow Cytometry Core, and the UH Library for funding of open access.r Yrj6Jahnsson Foundation (20217434 and 20207306 to K.N.); The Research Foundation of Rheu-matic Diseases (K.R., K.N.); the Sigrid Juse lius Foundation; Finnish Foundation for Pe-diatric Research and Pediatric Research Center, Helsinki University Hospital (M.R.J.S.); Else Kr6ner-Fresenius Stiftung (EKFS, 2017_A110 to F.H.); and the German Federal Minis-try of Education and Research (BMBF, 01GM1910C to F.H.) . C.J.A.D. was funded by a Wellcome Clinical Research Career Development Fellowship (211153/Z/18/Z) and UK Medical Research Council Clinician Scientist Fellow-ship (MRX001598/1) . We are grateful to the following projects and research service core facilities: the Genomics of Rare Immune Disorders (GRID) Project for diagnostic testing in patient F6.II-1, the Institute of Molecular Medicine Finland Technology Center, the UH Biomedicum Imaging Unit, the UH Bio-medicum Flow Cytometry Core, and the UH Library for funding of open access.; http://hdl.handle.net/10138/575393; 85189992251; 001230157600001

الاتاحة: http://hdl.handle.net/10138/575393

المؤلفون: Hanitsch, Leif, Baumann, Ulrich, Boztug, Kaan, Burkhard‐Meier, Ulrike, Fasshauer, Maria, Habermehl, Pirmin, Hauck, Fabian, Klock, Gerd, Liese, Johannes, Meyer, Oliver, Müller, Rainer, Pachlopnik‐Schmid, Jana, Pfeiffer‐Kascha, Dorothea, Warnatz, Klaus, Wehr, Claudia, Wittke, Kirsten, Niehues, Tim, Bernuth, Horst von

وصف الملف: text

Relation: https://tuprints.ulb.tu-darmstadt.de/17813/9/EJI_EJI4901.pdf; https://tuprints.ulb.tu-darmstadt.de/17813/7/eji4901-sup-0001-suppmat.pdf; Hanitsch, Leif; Baumann, Ulrich; Boztug, Kaan; Burkhard‐Meier, Ulrike; Fasshauer, Maria; Habermehl, Pirmin; Hauck, Fabian; Klock, Gerd; Liese, Johannes; Meyer, Oliver; Müller, Rainer; Pachlopnik‐Schmid, Jana; Pfeiffer‐Kascha, Dorothea; Warnatz, Klaus; Wehr, Claudia; Wittke, Kirsten; Niehues, Tim; Bernuth, Horst von (2024)Treatment and management of primary antibody deficiency: German interdisciplinary evidence‐based consensus guideline. In: European Journal of Immunology : Basic, Clinical, Translational, 2020, 50 (10) doi:10.26083/tuprints-00017813 Article, Secondary publication, Publisher's Version

الاتاحة: http://tuprints.ulb.tu-darmstadt.de/17813/
https://tuprints.ulb.tu-darmstadt.de/17813/9/EJI_EJI4901.pdf
https://tuprints.ulb.tu-darmstadt.de/17813/7/eji4901-sup-0001-suppmat.pdf
https://doi.org/10.26083/tuprints-00017813

المؤلفون: Tsilifis, Christo, Speckmann, Carsten, Lum, Su Han, Fox, Thomas A., Soler, Adriana Margarit, Mozo, Yasmina, Corral, Dolores, Ewins, Anna-Maria, Hague, Rosie, Oikonomopoulou, Christina, Kałwak, Krzysztof, Drabko, Katarzyna, Wynn, Robert, Morris, Emma C., Elcombe, Suzanne, Bigley, Venetia, Lougaris, Vassilios, Malagola, Michele, Hauck, Fabian, Sedlacek, Petr, Laberko, Alexandra, Tjon, Jennifer M.L., Buddingh, Emilie P., Wehr, Claudia, Grimbacher, Bodo, Gennery, Andrew R., Lankester, Arjan C., Albert, Michael H., Neven, Bénédicte, Slatter, Mary A.

المساهمون: National Institute for Health and Care Research, UCLH Biomedical Research Centre

المصدر: Journal of Allergy and Clinical Immunology ; volume 154, issue 6, page 1534-1544 ; ISSN 0091-6749

الاتاحة: https://doi.org/10.1016/j.jaci.2024.08.020
https://api.elsevier.com/content/article/PII:S0091674924009035?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0091674924009035?httpAccept=text/plain

المؤلفون: Lanz, Anna Lisa, Erdem, Şerife, Özcan, Alper, Ceylaner, Gülay, Cansever,Murat, Ceylaner, Serdar, Conca, Raffaele, Magg, Thomas, Acuto, Oreste, Latour, Sylvain, Klein, Christoph, Patiroglu, Turkan, Unal, Ekrem, Eken, Ahmet, Hauck, Fabian

المساهمون: Diğer, orcid:0000-0002-2691-4826

مصطلحات موضوعية: CD4 and CD8 co-receptor expression, inborn errors of immunity, LCK deficiency, profound T-cell immune deficiency, TCR signaling

وصف الملف: application/pdf

Relation: Journal of Clinical Immunology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Lanz A.-L., Erdem S., Ozcan A., Ceylaner G., Cansever M., Ceylaner S., Conca R., (.) & Hauck F. (January 2024). Correction to: a novel biallelic lck variant resulting in profound t-cell ımmune deficiency and review of the literature. Journal of Clinical Immunology (44, 1.). https://doi.org/10.1007/s10875-023-01602-8.; https://doi.org/10.1007/s10875-023-01602-8; https://hdl.handle.net/20.500.11782/4184; 44

الاتاحة: https://hdl.handle.net/20.500.11782/4184
https://doi.org/10.1007/s10875-023-01602-8

المؤلفون: Seidel, Markus G., Hauck, Fabian

المصدر: Journal of Allergy and Clinical Immunology ; volume 153, issue 3, page 615-628.e4 ; ISSN 0091-6749

الاتاحة: http://dx.doi.org/10.1016/j.jaci.2023.12.022
https://api.elsevier.com/content/article/PII:S0091674924000071?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0091674924000071?httpAccept=text/plain

المؤلفون: Nurmi, Katariina, Silventoinen, Kristiina, Keskitalo, Salla, Rajamäki, Kristiina, Kouri, Vesa-Petteri, Kinnunen, Matias, Jalil, Sami, Maldonado, Rocio, Wartiovaara, Kirmo, Nievas, Elma Inés, Denita-Juárez, Silvina Paola, Duncan, Christopher J.A., Kuismin, Outi, Saarela, Janna, Romo, Inka, Martelius, Timi, Parantainen, Jukka, Beklen, Arzu, Bilicka, Marcelina, Matikainen, Sampsa, Nordström, Dan C., Kaustio, Meri, Wartiovaara-Kautto, Ulla, Kilpivaara, Outi, Klein, Christoph, Hauck, Fabian, Jahkola, Tiina, Hautala, Timo, Varjosalo, Markku, Barreto, Goncalo, Seppänen, Mikko R.J., Eklund, Kari K.

المصدر: Cell Reports Medicine ; volume 5, issue 4, page 101503 ; ISSN 2666-3791

الاتاحة: http://dx.doi.org/10.1016/j.xcrm.2024.101503
https://api.elsevier.com/content/article/PII:S2666379124001721?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2666379124001721?httpAccept=text/plain

المؤلفون: Baysac, Kathleen, Sun, Guangping, Nakano, Hiroto, Schmitz, Elizabeth G., Cruz, Anthony C., Fisher, Charles, Bailey, Alexis C., Mace, Emily, Milner, Joshua D., Ombrello, Michael J., Abbott, Jordan K., Aldave Becerra, Juan Carlos, Allenspach, Eric J., Assing, Kristian, Atkinson, T. Prescott, Bargir, Umair A., Baxter, Sarah K., Bergerson, Jenna R.E., Bista, Ranjan, Blanche, Stephane, Buckley, Lenore M., Butte, Manish, Carcamo, Benjamin, Chandrakala, Shanmukhaiah, Chen, Karin, Chervinskiy, Sheva, Chinn, Ivan K., Chong, Hey J., Coffey, Kara E., Copland, Andrew P., Cowen, Edward W., Cros, Guilhem, De Bruycker, Jean Jacques, Teresa de la Morena, Maria, Ehlayel, Mohammed, Forbes Satter, Lisa R., Gelfand, Erwin W., Gilliaux, Olivier, Glover, Sara C., Gorman, Mark, Griffin, Thomas A., Grimbacher, Bodo, Gru, Alejandro A., Haddad, Elie, Hadjadj, Jerome, Hajjar, Joud, Hauck, Fabian, Hautala, Timo, Holland, Steven M., Hsieh, Elena W.Y.

المساهمون: National Institute of Allergy and Infectious Diseases, National Institute of Arthritis and Musculoskeletal and Skin Diseases

المصدر: Journal of Allergy and Clinical Immunology ; volume 153, issue 1, page 230-242 ; ISSN 0091-6749

الاتاحة: http://dx.doi.org/10.1016/j.jaci.2023.08.036
https://api.elsevier.com/content/article/PII:S0091674923012009?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0091674923012009?httpAccept=text/plain

المؤلفون: Meyts, Isabelle, Bucciol, Giorgia, Quinti, Isabella, Neven, Bénédicte, Fischer, Alain, Seoane, Elena, Lopez-Granados, Eduardo, Gianelli, Carla, Robles-Marhuenda, Angel, Jeandel, Pierre-Yves, Paillard, Catherine, Sankaran, Vijay G, Demirdag, Yesim Yilmaz, Lougaris, Vassilios, Aiuti, Alessandro, Plebani, Alessandro, Milito, Cinzia, Dalm, Virgil ASH, Guevara-Hoyer, Kissy, Sánchez-Ramón, Silvia, Bezrodnik, Liliana, Barzaghi, Federica, Gonzalez-Granado, Luis Ignacio, Hayman, Grant R, Uzel, Gulbu, Mendonça, Leonardo Oliveira, Agostini, Carlo, Spadaro, Giuseppe, Badolato, Raffaele, Soresina, Annarosa, Vermeulen, François, Bosteels, Cedric, Lambrecht, Bart N, Keller, Michael, Mustillo, Peter J, Abraham, Roshini S, Gupta, Sudhir, Ozen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Freeman, Alexandra F, Yamazaki-Nakashimada, Marco, Scheffler-Mendoza, Selma, Espinosa-Padilla, Sara, Gennery, Andrew R, Jolles, Stephen, Espinosa, Yazmin, Poli, M Cecilia, Fieschi, Claire, Hauck, Fabian, Cunningham-Rundles, Charlotte, Mahlaoui, Nizar, Errors of Immunity, IUIS Committee of Inborn, Warnatz, Klaus, Sullivan, Kathleen E, Tangye, Stuart G

المصدر: Journal of Allergy and Clinical Immunology. 147(2)

مصطلحات موضوعية: Vaccine Related, Clinical Research, Pneumonia & Influenza, Prevention, Pediatric, Emerging Infectious Diseases, Pneumonia, Infectious Diseases, Lung, Biodefense, Rare Diseases, Good Health and Well Being, Adolescent, Adult, Aged, COVID-19, Child, Child, Preschool, Female, Genetic Diseases, Inborn, Humans, Immunologic Deficiency Syndromes, Infant, Infant, Newborn, Male, Middle Aged, Retrospective Studies, Risk Factors, SARS-CoV-2, Severity of Illness Index, Young Adult, primary immunodeficiencies, inborn errors of immunity, hypogammaglobulinemia, immune dysregulation, IUIS Committee of Inborn Errors of Immunity, Immunology, Allergy

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/1wb709h7

المؤلفون: Köhler, Sebastian, Gargano, Michael, Matentzoglu, Nicolas, Carmody, Leigh C, Lewis-Smith, David, Vasilevsky, Nicole A, Danis, Daniel, Balagura, Ganna, Baynam, Gareth, Brower, Amy M, Callahan, Tiffany J, Chute, Christopher G, Est, Johanna L, Galer, Peter D, Ganesan, Shiva, Griese, Matthias, Haimel, Matthias, Pazmandi, Julia, Hanauer, Marc, Harris, Nomi L, Hartnett, Michael J, Hastreiter, Maximilian, Hauck, Fabian, He, Yongqun, Jeske, Tim, Kearney, Hugh, Kindle, Gerhard, Klein, Christoph, Knoflach, Katrin, Krause, Roland, Lagorce, David, McMurry, Julie A, Miller, Jillian A, Munoz-Torres, Monica C, Peters, Rebecca L, Rapp, Christina K, Rath, Ana M, Rind, Shahmir A, Rosenberg, Avi Z, Segal, Michael M, Seidel, Markus G, Smedley, Damian, Talmy, Tomer, Thomas, Yarlalu, Wiafe, Samuel A, Xian, Julie, Yüksel, Zafer, Helbig, Ingo, Mungall, Christopher J, Haendel, Melissa A, Robinson, Peter N

المصدر: Nucleic Acids Research. 49(D1)

مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Networking and Information Technology R&D (NITRD), Neurosciences, Neurodegenerative, Animals, Biological Ontologies, Computational Biology, Databases, Factual, Disease, Disease Models, Animal, Genome, Genotype, Humans, Infant, Newborn, International Cooperation, Internet, Neonatal Screening, Pharmacogenetics, Phenotype, Software, Terminology as Topic, Environmental Sciences, Information and Computing Sciences, Developmental Biology, Biological sciences, Chemical sciences, Environmental sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8zg6p5jr
https://escholarship.org/content/qt8zg6p5jr/qt8zg6p5jr.pdf

المؤلفون: Fekadu-Siebald, Julia, Salzmann-Manrique, Emilia, Heusel, Jan Robert, Willasch, Andre Manfred, Hauck, Fabian, Granado-Gonzalez, Luis Ignacio, Chavoshzadeh, Zahra, Sharafian, Samin, Cuntz, Franziska, Baris, Safa, Finocchi, Andrea, Algeri, Mattia, Sherkat, Roya, Klaudel-Dreszler, Maja, Zeidler, Cornelia, Bellanné-Chantelot, Christine, Kindle, Gerhard, Beaupain, Blandine, Paillard, Catherine, Seidel, Markus G., Bader, Peter, Albert, Michael H., Neven, Benedicte, Donadieu, Jean, Bakhtiar, Shahrzad

المصدر: Blood advances. - (2025) , ISSN: 2473-9537

Relation: https://freidok.uni-freiburg.de/data/262086

الاتاحة: https://freidok.uni-freiburg.de/data/262086
https://doi.org/10.1182/bloodadvances.2024014344

المؤلفون: Magg, Thomas, Shcherbina, Anna, Arslan, Duran, Desai, Mukesh M, Wall, Sarah, Mitsialis, Vanessa, Conca, Raffaele, Unal, Ekrem, Karacabey, Neslihan, Mukhina, Anna, Rodina, Yulia, Taur, Prasad D, Illig, David, Marquardt, Benjamin, Hollizeck, Sebastian, Jeske, Tim, Gothe, Florian, Schober, Tilmann, Rohlfs, Meino, Koletzko, Sibylle, Lurz, Eberhard, Muise, Aleixo M, Snapper, Scott B, Hauck, Fabian, Klein, Christoph, Kotlarz, Daniel

المصدر: Inflammatory Bowel Diseases. 25(11)

مصطلحات موضوعية: Autoimmune Disease, Clinical Research, Genetics, Human Genome, Inflammatory Bowel Disease, Pediatric, Crohn's Disease, Digestive Diseases, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, Inflammatory and immune system, Oral and gastrointestinal, Age of Onset, Child, Child, Preschool, Female, Genetic Predisposition to Disease, Humans, Inflammatory Bowel Diseases, Lymphocytes, Male, Microfilament Proteins, Mutation, Phenotype, Exome Sequencing, immunodeficiency, very early onset inflammatory bowel diseases, CARMIL2, Clinical Sciences, Gastroenterology & Hepatology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8932n59h

المؤلفون: Isay, Sophie E., Vornholz, Larsen, Schnalzger, Theresa, Groll, Tanja, Magg, Thomas, Loll, Patricia, Weirich, Gregor, Steiger, Katja, Hauck, Fabian, Ruland, Jürgen

المصدر: Proceedings of the National Academy of Sciences of the United States of America; 12/17/2024, Vol. 121 Issue 51, p1-9, 14p

مصطلحات موضوعية: HEMOPHAGOCYTIC lymphohistiocytosis, MACROPHAGES, ANTIGEN receptors, DENDRITIC cells, CELL communication