未登录 分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
A novel transmembrane CXCR4 variant that expands the WHIM genotype-phenotype paradigm Zmajkovicova, Katarina; Pawar, Sumit; Sharapova, Svetlana O.; Geier, Christoph B.; Wiest, Ivana; Nguyen, Chi; Monticelli, Halenya; Maier-Munsa, Sabine; Chen, Kelly; Sleasman, John W.; Aleshkevich, Svetlana; Polyakova, Ekaterina; Sakovich, Inga; Warnatz, Klaus; Grimbacher, Bodo; Proietti, Michele; Sondheimer, Neal; Ujhazi, Boglarka; Gordon, Sumai; Ellison, Maryssa; Yilmaz, Melis; Walter, Jolan E.; Badarau, Adriana; Taveras, Arthur G.; Neff, Jadee L.; Bledsoe, Jacob R.; Tarrant, Teresa K. 分享 收藏
Impaired B-cell function in ERCC2 deficiency Rossmanith, Raphael; Sauerwein, Kai; Geier, Christoph B.; Leiss-Piller, Alexander; Stemberger, Roman F.; Sharapova, Svetlana; Gruber, Robert W.; Bergler, Helmut; Verbsky, James W.; Csomos, Krisztian; Walter, Jolan E.; Wolf, Hermann M. 分享 收藏
Clinical, immunological features, treatments, and outcomes of autoimmune hemolytic anemia in patients with RAG deficiency RAG缺乏症患者自身免疫性溶血性贫血的临床、免疫学特征、治疗和结局 Wang, Chen; Sun, Bijun; Wu, Kevin; Farmer, Jocelyn R.; Ujhazi, Boglarka; Geier, Christoph B.; Gordon, Sumai; Westermann-Clark, Emma; Savic, Sinisa; Secord, Elizabeth; Sargur, Ravishankar; Chen, Karin; Jin, Jay J.; Dutmer, Cullen M.; Kanariou, Maria G.; Adeli, Mehdi; Palma, Paolo; Bon, Carmem; Lycopoulou, Evangelia; Wolska-Kusnierz, Beata; Dbaibo, Ghassan; Bleesing, Jack; Moshous, Despina; Neven, Benedicte; Schuetz, Catharina; Geha, Raif S.; Notarangelo, Luigi D.; Miano, Maurizio; Buchbinder, David K.; Csomos, Krisztian; Wang, Wenjie; Wang, Ji-Yang; Wang, Xiaochuan; Walter, Jolan E. 分享 收藏
Activated phosphoinositide 3-kinase d syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity 活化的磷酸肌醇3-激酶d综合征: 来自ESID注册表的更新以及与其他自身免疫-淋巴增生先天性免疫错误的比较 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; Cath, 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, Lennar; Hauck, Fabian; Heeg, Maximilian; Heropolitanska-Pliszka, Edyta; Hilfanova, Anna; Jolles, Stephen; Karakoc-Aydiner, Elif; Kindle, Gerhard R.; Kiykim, Ayca; Klemann, Christian; Koletsi, Patra; Koltan, Sylwia; Kondratenko, Irina; Korholz, Julia; Kruger, 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; Truck, Johannes; Uhlmann, Annette; van Aerde, Koen J.; van Montfrans, Joris; von Bernuth, Horst; Warnatz, Klaus; Williams, Tony; Worth, Austen J. J.; Ip, Winnie; Picard, Capucine; Catherinot, Emilie; Nademi, Zohreh; Grimbacher, Bodo; Satter, Lisa R. Forbes; Kracker, Sven; Chandra, Anita; Condliffe, Alison M.; Ehl, Stephan 分享 收藏
Functionally impaired antibody response to BNT162b2 booster vaccination in CVID IgG Sauerwein, Kai M. T.; Geier, Christoph B.; Stemberger, Roman F.; Rossmanith, Raphael; Akyaman, Huseyin; Illes, Peter; Fischer, Michael B.; Eibl, Martha M.; Walter, Jolan E.; Wolf, Hermann M. 分享 收藏
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency Levy, Romain; Gothe, Florian; Momenilandi, Mana; Magg, Thomas; Materna, Marie; Peters, Philipp; Raedler, Johannes; Philippot, Quentin; Rack-Hoch, Anita Lena; Langlais, David; Bourgey, Mathieu; Lanz, Anna-Lisa; Ogishi, Masato; Rosain, Jeremie; Martin, Emmanuel; Latour, Sylvain; Vladikine, Natasha; Distefano, Marco; Khan, Taushif; Rapaport, Franck; Schulz, Marian S.; Holzer, Ursula; Fasth, Anders; Sogkas, Georgios; Speckmann, Carsten; Troilo, Arianna; Bigley, Venetia; Roppelt, Anna; Dinur-Schejter, Yael; Toker, Ori; Martinsen, Karen Helene Bronken; Sherkat, Roya; Somekh, Ido; Somech, Raz; Shouval, Dror S.; Kuehl, Joern-Sven; Ip, Winnie; McDermott, Elizabeth M.; Cliffe, Lucy; Ozen, Ahmet; Baris, Safa; Rangarajan, Hemalatha G.; Jouanguy, Emmanuelle; Puel, Anne; Bustamante, Jacinta; Alyanakian, Marie-Alexandra; Fusaro, Mathieu; Wang, Yi; Kong, Xiao-Fei; Cobat, Aurelie; Boutboul, David; Castelle, Martin; Aguilar, Claire; Hermine, Olivier; Cheminant, Morgane; Suarez, Felipe; Yildiran, Alisan; Bousfiha, Aziz; Al-Mousa, Hamoud; Alsohime, Fahad; Cagdas, Deniz; Abraham, Roshini S.; Knutsen, Alan P.; Fevang, Borre; Bhattad, Sagar; Kiykim, Ayca; Erman, Baran; Arikoglu, Tugba; Unal, Ekrem; Kumar, Ashish; Geier, Christoph B.; Baumann, Ulrich; Neven, Benedicte; Rohlfs, Meino; Walz, Christoph; Abel, Laurent; Malissen, Bernard; Marr, Nico; Klein, Christoph; Casanova, Jean-Laurent; Hauck, Fabian; Beziat, Vivien 分享 收藏
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients Geier, Christoph B.; Ellison, Maryssa; Cruz, Rachel; Pawar, Sumit; Leiss-Piller, Alexander; Zmajkovicova, Katarina; McNulty, Shannon M.; Yilmaz, Melis; Evans, Martin Oman, II; Gordon, Sumai; Ujhazi, Boglarka; Wiest, Ivana; Abolhassani, Hassan; Aghamohammadi, Asghar; Barmettler, Sara; Bhar, Saleh; Bondarenko, Anastasia; Bolyard, Audrey Anna; Buchbinder, David; Cada, Michaela; Cavieres, Mirta; Connelly, James A.; Dale, David C.; Deordieva, Ekaterina; Dorsey, Morna J.; Drysdale, Simon B.; Ehl, Stephan; Elfeky, Reem; Fioredda, Francesca; Firkin, Frank; Forster-Waldl, Elizabeth; Geng, Bob; Goda, Vera; Gonzalez-Granado, Luis; Grunebaum, Eyal; Grzesk, Elzbieta; Henrickson, Sarah E.; Hilfanova, Anna; Hiwatari, Mitsuteru; Imai, Chihaya; Ip, Winnie; Jyonouchi, Soma; Kanegane, Hirokazu; Kawahara, Yuta; Khojah, Amer M.; Kim, Vy Hong-Diep; Kojic, Marina; Koltan, Sylwia; Krivan, Gergely; Langguth, Daman; Lau, Yu-Lung; Leung, Daniel; Miano, Maurizio; Mersyanova, Irina; Mousallem, Talal; Muskat, Mica; Naoum, Flavio A.; Noronha, Suzie A.; Ouederni, Monia; Ozono, Shuichi; Richmond, G. Wendell; Sakovich, Inga; Salzer, Ulrich; Schuetz, Catharina; Seeborg, Filiz Odabasi; Sharapova, Svetlana O.; Sockel, Katja; Volokha, Alla; von Bonin, Malte; Warnatz, Klaus; Wegehaupt, Oliver; Weinberg, Geoffrey A.; Wong, Ke-Juin; Worth, Austen; Yu, Huang; Zharankova, Yulia; Zhao, Xiaodong; Devlin, Lisa; Badarau, Adriana; Csomos, Krisztian; Keszei, Marton; Pereira, Joao; Taveras, Arthur G.; Beaussant-Cohen, Sarah L.; Ong, Mei-Sing; Shcherbina, Anna; Walter, Jolan E. 分享 收藏
Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells Csomos, Krisztian; Ujhazi, Boglarka; Blazso, Peter; Herrera, Jose L.; Tipton, Christopher M.; Kawai, Tomoki; Gordon, Sumai; Ellison, Maryssa; Wu, Kevin; Stowell, Matthew; Haynes, Lauren; Cruz, Rachel; Zakota, Bence; Nguyen, Johnny; Altrich, Michelle; Geier, Christoph B.; Sharapova, Svetlana; Dasso, Joseph F.; Leiding, Jennifer W.; Smith, Grace; Al-Herz, Waleed; Dorna, Mayra de Barros; Fadugba, Olajumoke; Fronkova, Eva; Kanderova, Veronika; Svaton, Michael; Henrickson, Sarah E.; Hernandez, Joseph D.; Kuijpers, Taco; Kandilarova, Snezhina Mihailova; Naumova, Elizaveta; Milota, Tomas; Sediva, Anna; Moshous, Despina; Neven, Benedicte; Saco, Tara; Sargur, Ravishankar; Savic, Sinisa; Sleasman, John; Sunkersett, Gauri; Ward, Brant R.; Komatsu, Masanobu; Pittaluga, Stefania; Kumanovics, Attila; Butte, Manish J.; Cancro, Michael P.; Pillai, Shiv; Meffre, Eric; Notarangelo, Luigi D.; Walter, Jolan E. 分享 收藏
分享 收藏
SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience SCID和其他先天性免疫力低下的缺陷-巴西的经验 Barreiros, Lucila Akune; Sousa, Jusley Lira; Geier, Christoph; Leiss-Piller, Alexander; Pylles Patto Kanegae, Marilia; Franca, Tabata Takahashi; Boisson, Bertrand; Lima, Alessandra Miramontes; Tavares Costa-Carvalho, Beatriz; Aranda, Carolina Sanchez; de Moraes-Pinto, Maria Isabel; Silva Segundo, Gesmar Rodrigues; Fernandes Severo Ferreira, Janaira; Tavares, Fabiola Scancetti; Timburiba de Medeiros Guimaraes, Flavia Alice; Toledo, Eliana Cristina; da Matta Ain, Ana Carolina; Moreira, Iramirton Figueiredo; Soldatelli, Gustavo; Grumach, Anete Sevciovic; Dorna, Mayra de Barros; Weber, Cristina Worm; Watanabe Di Gesu, Regina Sumiko; Dantas, Vera Maria; Fernandes, Fatima Rodrigues; Torgerson, Troy Robert; Ochs, Hans Dietrich; Bustamante, Jacinta; Walter, Jolan Eszter; Condino-Neto, Antonio 分享 收藏
分享 收藏
Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naive Boy Is Associated With a Novel SH2D1A Mutation Steininger, Jolanda; Rossmanith, Raphael; Geier, Christoph B.; Leiss-Piller, Alexander; Thonhauser, Lukas; Weiss, Simone; Hainfellner, Johannes A.; Freilinger, Michael; Schmidt, Wolfgang M.; Eibl, Martha M.; Wolf, Hermann M. 分享 收藏
Case Report: A Novel IL2RG Frame-Restoring Rescue Mutation Mimics Early T Cell Engraftment Following Haploidentical Hematopoietic Stem Cell Transplantation in a Patient With X-SCID Steininger, Jolanda; Leiss-Piller, Alexander; Geier, Christoph B.; Rossmanith, Raphael; Elfeky, Reem; Bra, David; Pichler, Herbert; Lawitschka, Anita; Zubarovskaya, Natascha; Artacker, Gottfried; Matthes-Leodolter, Susanne; Eibl, Martha M.; Wolf, Hermann M. 分享 收藏
Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency 血管炎是部分RAG缺乏症患者的主要发病因素 Geier, Christoph B.; Farmer, Jocelyn R.; Foldvari, Zsofia; Ujhazi, Boglarka; Steininger, Jolanda; Sleasman, John W.; Parikh, Suhag; Dilley, Meredith A.; Pai, Sung-Yun; Henderson, Lauren; Hazen, Melissa; Neven, Benedicte; Moshous, Despina; Sharapova, Svetlana O.; Mihailova, Snezhina; Yankova, Petya; Naumova, Elisaveta; Ozen, Seza; Byram, Kevin; Fernandez, James; Wolf, Hermann M.; Eibl, Martha M.; Notarangelo, Luigi D.; Calabrese, Leonard H.; Walter, Jolan E. 分享 收藏
The Clinical and Genetic Spectrum of 82 Patients WithRAGDeficiency Including a c.256_257delAA Founder Variant in Slavic Countries Sharapova, Svetlana O.; Skomska-Pawliszak, Malgorzata; Rodina, Yulia A.; Wolska-Kusnierz, Beata; Dabrowska-Leonik, Nel; Mikoluc, Bozena; Pashchenko, Olga E.; Pasic, Srdjan; Freiberger, Tomas; Milota, Tomas; Formankova, Renata; Szaflarska, Anna; Siedlar, Maciej; Avcin, Tadej; Markelj, Gasper; Ciznar, Peter; Kalwak, Krzysztof; Kottan, Sylwia; Jackowska, Teresa; Drabko, Katarzyna; Gagro, Alenka; Pac, Malgorzata; Naumova, Elissaveta; Kandilarova, Snezhina; Babol-Pokora, Katarzyna; Varabyou, Dzmitry S.; Barendregt, Barbara H.; Raykina, Elena, V; Varlamova, Tatiana V.; Pavlova, Anna, V; Grombirikova, Hana; Debeljak, Marusa; Mersiyanova, Irina, V; Bondarenko, Anastasiia, V; Chernyshova, Liudmyla, I; Kostyuchenko, Larysa, V; Guseva, Marina N.; Rascon, Jelena; Muleviciene, Audrone; Preiksaitiene, Egle; Geier, Christoph B.; Leiss-Piller, Alexander; Yamazaki, Yasuhiro; Kawai, Tomoki; Walter, Jolan E.; Kondratenko, Irina, V; Sediva, Anna; van Der Burg, Mirjam; Kuzmenko, Natalia B.; Notarangelo, Luigi D.; Bernatowska, Ewa; Aleinikova, Olga, V 分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
