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Diagnostic workflow for X-linked agammaglobulinemia integrating BTK expression and B-cell maturation analysis by flow cytometry Igonina, Mariia; Malakhova, Ekaterina; Fadeeva, Mariia; Vedmedskaia, Viktoriia; Shlyapnikov, Yuri; Musaeva, Elvira; Kieva, Amina; Raykina, Elena; Lodoeva, Oyuna; Sozonova, Tatiana; Abramova, Irina; Yukhacheva, Daria; Roppelt, Anna; Fomina, Daria; Zinoveva, Natalia; Mukhina, Anna; Merkushov, Aleksey; Rodina, Yulia; Maschan, Michael; Shcherbina, Anna; Pershin, Dmitry Share Save
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Genetic Characteristics of a Large Pediatric Cohort of Patients with Inborn Errors of Immunity: Single-Center Experience Kuzmenko, Natalia; Alexenko, Maxim; Mukhina, Anna; Rodina, Yulia; Fadeeva, Mariia; Pershin, Dmitrii; Kieva, Amina; Raykina, Elena; Maschan, Michael; Novichkova, Galina; Shcherbina, Anna Share Save
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns Marakhonov, Andrey V.; Efimova, Irina Yu.; Mukhina, Anna A.; Zinchenko, Rena A.; Balinova, Natalya V.; Rodina, Yulia; Pershin, Dmitry; Ryzhkova, Oxana P.; Orlova, Anna A.; Zabnenkova, Viktoriia V.; Cherevatova, Tatiana B.; Beskorovainaya, Tatiana S.; Shchagina, Olga A.; Polyakov, Alexander V.; Markova, Zhanna G.; Minzhenkova, Marina E.; Shilova, Nadezhda V.; Larin, Sergey S.; Khadzhieva, Maryam B.; Dudina, Ekaterina S.; Kalinina, Ekaterina V.; Mudaeva, Dzhaina A.; Saydaeva, Djamila H.; Matulevich, Svetlana A.; Belyashova, Elena Yu.; Yakubovskiy, Grigoriy I.; Tebieva, Inna S.; Gabisova, Yulia V.; Irinina, Nataliya A.; Nurgalieva, Liya R.; Saifullina, Elena V.; Belyaeva, Tatiana I.; Romanova, Olga S.; Voronin, Sergey V.; Shcherbina, Anna; Kutsev, Sergey I. Share Save
Activated phosphoinositide 3-kinase d syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity 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 Share Save
Allogeneic Hematopoietic Stem Cell Transplantation Activity in Inborn Errors of Immunity in Russian Federation Laberko, Alexandra; Mukhina, Anna; Machneva, Elena; Pashchenko, Olga; Bykova, Tatiana; Vahonina, Larisa; Bronin, Gleb; Skvortsova, Yulia; Skorobogatova, Elena; Kondratenko, Irina; Fechina, Larisa; Shcherbina, Anna; Zubarovskaya, Ludmila; Balashov, Dmitry; Rumiantsev, Alexander Share Save
Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021 Abolhassani, Hassan; Avcin, Tadej; Bahceciler, Nerin; Balashov, Dmitry; Bata, Zsuzsanna; Bataneant, Mihaela; Belevtsev, Mikhail; Bernatowska, Ewa; Bidlo, Judit; Blazso, Peter; Boisson, Bertrand; Bolkov, Mikhail; Bondarenko, Anastasia; Boyarchuk, Oksana; Bundschu, Anna; Casanova, Jean-Laurent; Chernishova, Liudmyla; Ciznar, Peter; Csuerke, Ildiko; Erdos, Melinda; Farkas, Henriette; Fomina, Daria S.; Galal, Nermeen; Goda, Vera; Guner, Sukru Nail; Hauser, Peter; Ilyina, Natalya I.; Iremadze, Teona; Iritsyan, Sevan; Ismaili-Jaha, Vlora; Jesenak, Milos; Kelecic, Jadranka; Keles, Sevgi; Kindle, Gerhard; Kondratenko, Irina V.; Kostyuchenko, Larysa; Kovzel, Elena; Krivan, Gergely; Kuli-Lito, Georgina; Kumanovics, Gabor; Kurjane, Natalja; Latysheva, Elena A.; Latysheva, Tatiana V.; Lazar, Istvan; Markelj, Gasper; Markovic, Maja; Marodi, Laszlo; Mammadova, Vafa; Medvecz, Marta; Miltner, Noemi; Mironska, Kristina; Modell, Fred; Modell, Vicki; Mosdosi, Bernadett; Mukhina, Anna A.; Murdjeva, Marianna; Muzes, Gyoergyi; Nabieva, Umida; Nasrullayeva, Gulnara; Naumova, Elissaveta; Nagy, Kalman; Onozo, Beata; Orozbekova, Bubusaira; Pac, Malgorzata; Pagava, Karaman; Pampura, Alexander N.; Pasic, Srdjan; Petrosyan, Mery; Petrovic, Gordana; Pocek, Lidija; Prodeus, Andrei P.; Reisli, Ismail; Ress, Krista; Rezaei, Nima; Rodina, Yulia A.; Rumyantsev, Alexander G.; Sciuca, Svetlana; Sediva, Anna; Serban, Margit; Sharapova, Svetlana; Shcherbina, Anna; Sitkauskiene, Brigita; Snimshchikova, Irina; Spahiu-Konjusha, Shqipe; Szolnoky, Miklos; Szucs, Gabriella; Toplak, Natasa; Toth, Beata; Tsyvkina, Galina; Tuzankina, Irina; Vlasova, Elena; Volokha, Alla Share Save
BCG Infection in Patients With Inborn Errors of Immunity Receiving the Russian BCG Strain Laberko, Alexandra; Yukhacheva, Daria; Kan, Nelly; Roppelt, Anna; Mukhina, Anna; Rodina, Yulia; Pershin, Dmitry; Cheng, Aristine; Lionakis, Michail S.; Solopova, Galina; Kadnikova, Olga; Mushkin, Aleksandr; Novichkova, Galina; Shcherbina, Anna Share Save
International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome 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 J. J.; Laberko, Alexandra; Mukhina, Anna; Neven, Benedicte; 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, Gasper; Modi, Arunkumar; Bayer, Diana K.; Notarangelo, Luigi D.; Schulz, Ansgar; Garcia-Prat, Marina; Soler-Palacin, Pere; Karakukcu, 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. Share Save
Rituximab and Abatacept Are Effective in Differential Treatment of Interstitial Lymphocytic Lung Disease in Children With Primary Immunodeficiencies Rodina, Yulia; Deripapa, E.; Shvets, O.; Mukhina, A.; Roppelt, A.; Yuhacheva, D.; Laberko, A.; Burlakov, V.; Abramov, D.; Tereshchenko, G.; Novichkova, G.; Shcherbina, Anna Share Save
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients Le Coz, Carole; Nguyen, David N.; Su, Chun; Nolan, Brian E.; Albrecht, Amanda V.; Xhani, Suela; Sun, Di; Demaree, Benjamin; Pillarisetti, Piyush; Khanna, Caroline; Wright, Francis; Chen, Peixin Amy; Yoon, Samuel; Stiegler, Amy L.; Maurer, Kelly; Garifallou, James P.; Rymaszewski, Amy; Kroft, Steven H.; Olson, Timothy S.; Seif, Alix E.; Wertheim, Gerald; Grant, Struan F. A.; Vo, Linda T.; Puck, Jennifer M.; Sullivan, Kathleen E.; Routes, John M.; Zakharova, Viktoria; Shcherbina, Anna; Mukhina, Anna; Rudy, Natasha L.; Hurst, Anna C. E.; Atkinson, T. Prescott; Boggon, Titus J.; Hakonarson, Hakon; Abate, Adam R.; Hajjar, Joud; Nicholas, Sarah K.; Lupski, James R.; Verbsky, James; Chinn, Ivan K.; Gonzalez, Michael V.; Wells, Andrew D.; Marson, Alex; Poon, Gregory M. K.; Romberg, Neil Share Save
Primary Immunodeficiencies in Russia: Data From the National Registry Mukhina, Anna A.; Kuzmenko, Natalya B.; Rodina, Yulia A.; Kondratenko, Irina V.; Bologov, Andrei A.; Latysheva, Tatiana V.; Prodeus, Andrei P.; Pampura, Alexander N.; Balashov, Dmitrii N.; Ilyina, Natalya I.; Latysheva, Elena A.; Deordieva, Ekaterina A.; Shvets, Oksana A.; Deripapa, Elena V.; Abramova, Irina N.; Pashenko, Olga E.; Vahlyarskaya, Svetlana S.; Zinovyeva, Natalya V.; Zimin, Sergei B.; Skorobogatova, Elena V.; Machneva, Elena B.; Fomina, Daria S.; Ipatova, Maria G.; Barycheva, Ludmila Yu.; Khachirova, Ludmila S.; Tuzankina, Irina A.; Bolkov, Michail A.; Shakhova, Natalya V.; Kamaltynova, Elena M.; Sibgatullina, Farida I.; Guseva, Marina N.; Kuznetsova, Raisa N.; Milichkina, Anzhelika M.; Totolian, Areg A.; Kalinina, Natalia M.; Goltsman, Evgenia A.; Sulima, Ekatherina I.; Kutlyanceva, Anastasia Yu.; Moiseeva, Anna A.; Khoreva, Anna L.; Nesterenko, Zoya; Tymofeeva, Elena V.; Ermakova, A.; Proligina, Dilyara D.; Kalmetieva, Linara R.; Davletbaieva, Gulshat A.; Mirsayapova, Irina A.; Richkova, Olga A.; Kuzmicheva, Ksenia P.; Grakhova, Maria A.; Yudina, Natalya B.; Orlova, Ekaterina A.; Selezneva, Olga S.; Piskunova, Svetlana G.; Samofalova, Tatiana V.; Bukina, Tatiana V.; Pechkurova, Anna D.; Migacheva, N.; Zhestkov, A.; Barmina, Elena V.; Parfenova, Natalya A.; Isakova, Svetlana N.; Averina, Elena V.; Sazonova, Irina V.; Starikova, Svetlana Yu.; Shilova, Tatiana V.; Asekretova, Tatiana V.; Suprun, Roman N.; Kleshchenko, Elena I.; Lebedev, Vladimir V.; Demikhova, Elena V.; Demikhov, Valerii G.; Kalinkina, Veronica A.; Gorenkova, Alla V.; Duryagina, Svetlana N.; Pavlova, Tatiana B.; Shinkareva, Vera M.; Smoleva, Irina V.; Aleksandrova, Tatiana P.; Bambaeva, Zema V.; Philippova, Marina A.; Gracheva, Elena M.; Tcyvkina, Galina I.; Efremenkov, Alexey V.; Mashkovskaya, D.; Yarovaya, Irina V.; Alekseenko, Valentina A.; Fisyun, Ivan V.; Molokova, Galina V.; Troitskya, Ekatherina V.; Piatkina, Ludmila I.; Vlasova, Elena V.; Ukhanova, O.; Chernishova, Ekaterina G.; Vasilieva, M.; Laba, Olga M.; Volodina, E.; Safonova, Ekaterina V.; Voronin, Kirill A.; Gurkina, Maria V.; Rumyantsev, Alexander G.; Novichkova, Galina A.; Shcherbina, Anna Yu. Share Save
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score Tesch, Victoria Katharina; Abolhassani, Hassan; Shadur, Bella; Zobel, Joachim; Mareika, Yuliya; Sharapova, Svetlana; Karakoc-Aydiner, Elif; Riviere, Jacques G.; Garcia-Prat, Marina; Moes, Nicolette; Haerynck, Filomeen; Gonzales-Granado, Luis I.; Santos Perez, Juan Luis; Mukhina, Anna; Shcherbina, Anna; Aghamohammadi, Asghar; Hammarstrom, Lennart; Dogu, Figen; Haskologlu, Sule; Ikinciogullari, Aydan I.; Bal, Sevgi Kostel; Baris, Safa; Kilic, Sara Sebnem; Karaca, Neslihan Edeer; Kutukculer, Necil; Girschick, Hermann; Kolios, Antonios; Keles, Sevgi; Uygun, Vedat; Stepensky, Polina; Worth, Austen; van Montfrans, Joris M.; Peters, Anke M. J.; Meyts, Isabelle; Adeli, Mehdi; Marzollo, Antonio; Padem, Nurcicek; Khojah, Amer M.; Chavoshzadeh, Zahra; Stefanija, Magdalena Avbelj; Bakhtiar, Shahrzad; Florkin, Benoit; Meeths, Marie; Gamez, Laura; Grimbacher, Bodo; Seppanen, Mikko R. J.; Lankester, Arjan; Gennery, Andrew R.; Seidel, Markus G. Share Save
Disease evolution and response to rapamycin in Activated Phosphoinositide 3-Kinase δ syndrome: the european society for immunodeficiencies-Activated Phosphoinositide 3-Kinase d syndrome registry Maccari, Maria Elena; Abolhassani, Hassan; Aghamohammadi, Asghar; Aiuti, Alessandro; Aleinikova, Olga; Bangs, Catherine; Baris, Safa; Barzaghi, Federica; Baxendale, Helen; Buckland, Matthew; Burns, Siobhan O.; Cancrini, Caterina; Cant, Andrew; Cathebras, Pascal; Cavazzana, Marina; Chandra, Anita; Conti, Francesca; Coulter, Tanya; Devlin, Lisa A.; Edgar, J. David M.; Faust, Saul; Fischer, Alain; Prat, Marina Garcia; Hammarstrom, Lennart; Heeg, Maximilian; Jolles, Stephen; Karakoc-Aydiner, Elif; Kindle, Gerhard; Kiykim, Ayca; Kumararatne, Dinakantha; Grimbacher, Bodo; Longhurst, Hilary; Mahlaoui, Nizar; Milota, Tomas; Moreira, Fernando; Moshous, Despina; Mukhina, Anna; Neth, Olaf; Neven, Benedicte; Nieters, Alexandra; Olbrich, Peter; Ozen, Ahmet; Schmid, Jana Pachlopnik; Picard, Capucine; Prader, Seraina; Rae, William; Reichenbach, Janine; Rusch, Stephan; Savic, Sinisa; Scarselli, Alessia; Scheible, Raphael; Sediva, Anna; Sharapova, Svetlana O.; Shcherbina, Anna; Slatter, Mary; Soler-Palacin, Pere; Stanislas, Aurelie; Suarez, Felipe; Tucci, Francesca; Uhlmann, Annette; van Montfrans, Joris; Warnatz, Klaus; Williams, Anthony Peter; Wood, Phil; Kracker, Sven; Condliffe, Alison Mary; Ehl, Stephan Share Save
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