المؤلفون: Le Voyer, T, Parent, AV, Liu, X, Cederholm, A, Gervais, A, Rosain, J, Nguyen, T, Lorenzo, MP, Rackaityte, E, Rinchai, D, Zhang, P, Bizien, L, Hancioglu, G, Ghillani-Dalbin, P, Charuel, JL, Philippot, Q, Gueye, MS, Renkilaraj, MRLM, Ogishi, M, Soudee, C, Migaud, M, Rozenberg, F, Momenilandi, M, Riller, Q, Imberti, L, Delmonte, OM, Muller, G, Keller, B, Orrego, J, Gallego, WAF, Rubin, T, Emiroglu, M, Parvaneh, N, Eriksson, D, Aranda-Guillen, M, Berrios, DI, Vong, L, Katelaris, CH, Mustillo, P, Raedler, J, Bohlen, J, Celik, JB, Astudillo, C, Winter, S, McLean, C, Guffroy, A, DeRisi, JL, Yu, D, Miller, C, Feng, Y, Guichard, A, Beziat, V, Bustamante, J, Pan-Hammarstrom, Q, Zhang, Y, Rosen, LB, Holland, SM, Bosticardo, M, Kenney, H, Castagnoli, R, Slade, CA, Boztug, K, Mahlaoui, N, Latour, S, Abraham, RS, Lougaris, V, Hauck, F, Sediva, A, Atschekzei, F, Sogkas, G, Poli, MC, Slatter, MA, Palterer, B, Keller, MD, Pinzon-Charry, A, Sullivan, A, Droney, L, Suan, D, Wong, M, Kane, A, Hu, H, Ma, C, Grombirikova, H, Ciznar, P, Dalal, I, Aladjidi, N, Hie, M, Lazaro, E, Franco, J, Keles, S, Malphettes, M, Pasquet, M, Maccari, ME, Meinhardt, A, Ikinciogullari, A, Shahrooei, M, Celmeli, F, Frosk, P, Goodnow, CC, Gray, PE, Belot, A, Kuehn, HS, Rosenzweig, SD, Miyara, M, Licciardi, F, Servettaz, A, Barlogis, V, Le Guenno, G, Herrmann, VM, Kuijpers, T, Ducoux, G, Sarrot-Reynauld, F, Schuetz, C, Cunningham-Rundles, C, Rieux-Laucat, F, Tangye, SG, Sobacchi, C, Doffinger, R, Warnatz, K, Grimbacher, B, Fieschi, C, Berteloot, L, Bryant, VL, Assant, ST, Su, H, Neven, B, Abel, L, Zhang, Q, Boisson, B, Cobat, A, Jouanguy, E, Kampe, O, Bastard, P, Roifman, CM, Landegren, N, Notarangelo, LD, Anderson, MS, Casanova, JL, Puel, A

المصدر: Nature. 623(7988):803-813

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:155216327

المؤلفون: Block, V, Sevdali, E, Recher, M, Abolhassani, H, Hammarstrom, L, Smulski, CR, Baronio, M, Plebani, A, Proietti, M, Speletas, M, Warnatz, K, Voll, RE, Lougaris, V, Schneider, P, Eibel, H

المصدر: Journal of clinical immunology. 43(2):391-405

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:151136670

المؤلفون: Ye, XF, Maglione, PJ, Wehr, C, Li, XB, Wang, YT, Abolhassani, H, Deripapa, E, Liu, DB, Borte, S, Du, LK, Wan, H, Plotner, A, Giannoula, Y, Ko, HB, Hou, Y, Zhu, SD, Grossman, JK, Sander, B, Grimbacher, B, Hammarstrom, L, Fedorova, A, Rosenzweig, SD, Shcherbina, A, Wu, K, Warnatz, K, Cunningham-Rundles, C, Pan-Hammarstrom, Q

المصدر: Blood advances. 6(18):5403-5414

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:151114338

المؤلفون: Geier, CB, Ellison, M, Cruz, R, Pawar, S, Leiss-Piller, A, Zmajkovicova, K, McNulty, SM, Yilmaz, M, Evans, MO, Gordon, S, Ujhazi, B, Wiest, I, Abolhassani, H, Aghamohammadi, A, Barmettler, S, Bhar, S, Bondarenko, A, Bolyard, AA, Buchbinder, D, Cada, M, Cavieres, M, Connelly, JA, Dale, DC, Deordieva, E, Dorsey, MJ, Drysdale, SB, Ehl, S, Elfeky, R, Fioredda, F, Firkin, F, Forster-Waldl, E, Geng, B, Goda, V, Gonzalez-Granado, L, Grunebaum, E, Grzesk, E, Henrickson, SE, Hilfanova, A, Hiwatari, M, Imai, C, Ip, W, Jyonouchi, S, Kanegane, H, Kawahara, Y, Khojah, AM, Kim, VHD, Kojic, M, Koltan, S, Krivan, G, Langguth, D, Lau, YL, Leung, D, Miano, M, Mersyanova, I, Mousallem, T, Muskat, M, Naoum, FA, Noronha, SA, Ouederni, M, Ozono, S, Richmond, GW, Sakovich, I, Salzer, U, Schuetz, C, Seeborg, FO, Sharapova, SO, Sockel, K, Volokha, A, von Bonin, M, Warnatz, K, Wegehaupt, O, Weinberg, GA, Wong, KJ, Worth, A, Yu, H, Zharankova, Y, Zhao, XD, Devlin, L, Badarau, A, Csomos, K, Keszei, M, Pereira, J, Taveras, AG, Beaussant-Cohen, SL, Ong, MS, Shcherbina, A, Walter, JE

المصدر: Journal of clinical immunology. 42(8):1748-1765

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:150427018

المؤلفون: Zeisbrich, Markus^{Aff1, Aff2, IDs00393023013185_cor1}, Schindler, Viktoria, Krausz, Máté^{Aff3, Aff4}, Proietti, Michele, Mrovecova, Pavla, Voll, Reinhard E., Glaser, Cornelia, Röther, Fabian, Warnatz, Klaus^{Aff1, Aff3}, Venhoff, Nils^{Aff1, Aff2}

المصدر: Zeitschrift für Rheumatologie. 83(3):229-233

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

المؤلفون: Lorenzini, T, Fliegauf, M, Klammer, N, Frede, N, Proietti, M, Bulashevska, A, Camacho-Ordonez, N, Varjosalo, M, Kinnunen, M, de Vries, E, van der Meer, JWM, Ameratunga, R, Roifman, CM, Schejter, YD, Kobbe, R, Hautala, T, Atschekzei, F, Schmidt, RE, Schroder, C, Stepensky, P, Shadur, B, Pedroza, LA, van der Flier, M, Martinez-Gallo, M, Gonzalez-Granado, LI, Allende, LM, Shcherbina, A, Kuzmenko, N, Zakharova, V, Neves, JF, Svec, P, Fischer, U, Ip, W, Bartsch, O, Baris, S, Klein, C, Geha, R, Chou, J, Alosaimi, M, Weintraub, L, Boztug, K, Hirschmugl, T, Vilela, MMD, Holzinger, D, Seidl, M, Lougaris, V, Plebani, A, Alsina, L, Piquer-Gibert, M, Deya-Martinez, A, Slade, CA, Aghamohammadi, A, Abolhassani, H, Hammarstrom, L, Kuismin, O, Helminen, M, Allen, HL, Thaventhiran, JE, Freeman, AF, Cook, M, Bakhtiar, S, Christiansen, M, Cunningham-Rundles, C, Patel, NC, Rae, W, Niehues, T, Brauer, N, Syrjanen, J, Seppanen, MRJ, Burns, SO, Tuijnenburg, P, Kuijpers, TW, Warnatz, K, Grimbacher, B

المصدر: The Journal of allergy and clinical immunology. 146(4):901-911

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:145027375

المؤلفون: Rensing-Ehl, Anne, Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, Sophie, Ronan Leahy, Timothy, Meesilpavikai, Kornvalee, Cunningham-Rundles, Charlotte, Dutmer, Cullen, Sharapova, Svetlana, Taskinen, Mervi, Chua, Ignatius, Hague, Rosie, Klemann, Christian, Kostyuchenko, Larysa, Morio, Tomohiro, Thatayatikom, Akaluck, Ozen, Ahmet, Scherbina, Anna, Bauer, Cindy, Flanagan, Sarah, Gambineri, Eleonora, Giovannini-Chami, Lisa, Heimall, Jennifer, Sullivan, Kathleen, Allenspach, Eric, Romberg, Neil, Deane, Sean, Prince, Benjamin, Rose, Melissa, Bohnsack, John, Mousallem, Talal, Jesudas, Rohith, Santos Vilela, Maria, OSullivan, Michael, Pachlopnik Schmid, Jana, Průhová, Štěpánka, Klocperk, Adam, Rees, Matthew, Su, Helen, Bahna, Sami, Baris, Safa, Bartnikas, Lisa, Chang Berger, Amy, Briggs, Tracy, Brothers, Shannon, Bundy, Vanessa, Grunebaum, Eyal, Haapaniemi, Emma, Hämäläinen, Sari, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Hoffman, Hal, Gonzalez-Granado, Luis, Guerrerio, Anthony, Kainulainen, Leena, Kumar, Ashish, Lawrence, Monica, Levin, Carina, Martelius, Timi, Neth, Olaf, Olbrich, Peter, Palma, Alejandro, Patel, Niraj, Pozos, Tamara, Preece, Kahn, Lugo Reyes, Saúl, Russell, Mark, Schejter, Yael, Seroogy, Christine, Sinclair, Jan, Skevofilax, Effie, Suan, Daniel, Suez, Daniel, Szabolcs, Paul, Velasco, Helena, Warnatz, Klaus, Walkovich, Kelly, Worth, Austen, Seppänen, Mikko, Torgerson, Troy, Sogkas, Georgios, Ehl, Stephan, Tangye, Stuart, Cooper, Megan, Milner, Joshua, Forbes Satter, Lisa, Leiding, Jennifer, Vogel, Tiphanie, Santarlas, Valentine, Mhaskar, Rahul, Smith, Madison, Carisey, Alexandre, Vargas-Hernández, Alexander, Silva-Carmona, Manuel, Chandrakasan, Shanmuganathan, Christiansen, Mette, Cole, Theresa, Cook, Matthew, Desai, Mukesh, Fischer, Ute

المصدر: Journal of Allergy and Clinical Immunology. 151(4)

مصطلحات موضوعية: STAT3, autoimmunity, cytopenia, gain of function, immune dysregulation, immunodeficiency, lymphoproliferation, precision medicine, Child, Humans, Autoimmunity, Cohort Studies, Gain of Function Mutation, Immune System Diseases, Immunologic Deficiency Syndromes, Mutation, STAT3 Transcription Factor, Cell Proliferation, Lymphocytes

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2d2533sz

المؤلفون: Yang, R, Avery, DT, Jackson, KJL, Ogishi, M, Benhsaien, I, Du, LK, Ye, XF, Han, J, Rosain, J, Peel, JN, Alyanakian, MA, Neven, B, Winter, S, Puel, A, Boisson, B, Payne, KJ, Wong, M, Russell, AJ, Mizoguchi, Y, Okada, S, Uzel, G, Goodnow, CC, Latour, S, El Bakkouri, J, Bousfiha, A, Preece, K, Gray, PE, Keller, B, Warnatz, K, Boisson-Dupuis, S, Abel, L, Pan-Hammarstrom, Q, Bustamante, J, Ma, CS, Casanova, JL, Tangye, SG

المصدر: Science immunology. 7(73)

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:150651253

المؤلفون: Nishimura, Akira, Uppuluri, Ramya, Raj, Revathi, Swaminathan, Venkateswaran Vellaichamy, Cheng, Yifei, Abu-Arja, Rolla F., Fu, Bin, Laberko, Alexandra, Albert, Michael H., Hauck, Fabian, Bucciol, Giorgia, Bigley, Venetia^{Aff9, Aff10}, Elcombe, Suzanne, Kharya, Gaurav, Pronk, Cornelis Jan H, Wehr, Claudia, Neven, Bénédicte, Warnatz, Klaus^{Aff13, Aff15, Aff16}, Meyts, Isabelle^{Aff8, Aff17}, Morio, Tomohiro, Gennery, Andrew R., Kanegane, Hirokazu^{Aff19, IDs10875023015512_cor22}

المصدر: Journal of Clinical Immunology: International Journal of Inborn Errors of Immunity and Related Diseases. 43(8):1827-1839