Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections
Sharapova, Svetlana O., Haapaniemi, Emma, Sakovich, Inga S., Kostyuchenko, Larysa V., Donkó, Agnes, Dulau-Florea, Alina, Malko, Oksana, Bondarenko, Anastasia V., Stegantseva, Maria V., Leto, Thomas L., Uygun, Vedat, Karasu, Gulsun Tezcan, Holland, Steven M., Hsu, Amy P., Aleinikova, Olga V.
Published in Clinical immunology (Orlando, Fla.) (01.08.2019)
Published in Clinical immunology (Orlando, Fla.) (01.08.2019)
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Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5
Sharapova, Svetlana O, Pashchenko, Olga E, Bondarenko, Anastasiia V, Vakhlyarskaya, Svetlana S, Prokofjeva, Tatjana, Fedorova, Alina S, Savchak, Ihor, Mareika, Yuliya, Valiev, Timur T, Popa, Alexander, Tuzankina, Irina A, Vlasova, Elena V, Sakovich, Inga S, Polyakova, Ekaterina A, Rumiantseva, Natalia V, Naumchik, Irina V, Kulyova, Svetlana A, Aleshkevich, Svetlana N, Golovataya, Elena I, Minakovskaya, Nina V, Belevtsev, Mikhail V, Latysheva, Elena A, Latysheva, Tatiana V, Beznoshchenko, Alexander G, Akopyan, Hayane, Makukh, Halyna, Kozlova, Olena, Varabyou, Dzmitry S, Ballow, Mark, Ong, Mei-Sing, Walter, Jolan E, Kondratenko, Irina V, Kostyuchenko, Larysa V, Aleinikova, Olga V
Published in Frontiers in immunology (08.01.2021)
Published in Frontiers in immunology (08.01.2021)
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The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries
Sharapova, Svetlana O, Skomska-Pawliszak, Małgorzata, Rodina, Yulia A, Wolska-Kuśnierz, Beata, Dabrowska-Leonik, Nel, Mikołuć, Bozena, Pashchenko, Olga E, Pasic, Srdjan, Freiberger, Tomáš, Milota, Tomáš, Formánková, Renata, Szaflarska, Anna, Siedlar, Maciej, Avčin, Tadej, Markelj, Gašper, Ciznar, Peter, Kalwak, Krzysztof, Kołtan, Sylwia, Jackowska, Teresa, Drabko, Katarzyna, Gagro, Alenka, Pac, Małgorzata, 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, Maruša, 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, Šedivá, Anna, van der Burg, Mirjam, Kuzmenko, Natalia B, Notarangelo, Luigi D, Bernatowska, Ewa, Aleinikova, Olga V
Published in Frontiers in immunology (10.06.2020)
Published in Frontiers in immunology (10.06.2020)
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Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
Kindle, Gerhard, Rusch, Stephan, Seppänen, Mikko R.J., Mahlaoui, Nizar, Kojić, Marina, Seidel, Markus G., Smet, Julie, Milota, Tomas, Elaziz, Dalia Abd, Alkady, Radwa Salaheldin, Lotfy, Sohilla, Meshaal, Safa S., Sobh, Ali, Courteille, Virginie, Albert, Michael H., Atschekzei, Faranaz, Behrends, Uta, Belohradsky, Bernd H., Biegner, Anika-Kerstin, Boetticher, Benedikt, Dirks, Johannes, Dückers, Gregor, El-Helou, Sabine, Fasshauer, Maria, Fecker, Gisela, Goldacker, Sigune, Graf, Dagmar, Hanitsch, Leif Gunnar, Henes, Joerg C., Holzer, Ursula, Holzinger, Dirk, Joean, Oana, Kobbe, Robin, Körholz, Julia, Liese, Johannes G., Peter, Hans-Hartmut, Rieber, Nikolaus, Ritterbusch, Henrike, Rockstroh, Jürgen Kurt, Roesler, Joachim, Scheible, Raphael, Schmalzing, Marc, Schwarz, Klaus, Tenbrock, Klaus, Wasmuth, Jan-Christian, Wittke, Kirsten, Wittkowski, Helmut, Zeuner, Rainald A., Kanariou, Maria G., Kapousouzi, Androniki, Liatsis, Emmanouil, Goda, Vera, Kriván, Gergely, Abolhassani, Hassan, Feighery, Conleth, Ryan, Paul, Cesaro, Simone, Gambineri, Eleonora, Pignata, Claudio, Ricci, Silvia, Vacca, Angelo, Sitkauskiene, Brigita, Gowin, Ewelina, Heropolitańska-Pliszka, Edyta, Pietrucha, Barbara, Szaflarska, Anna, Esteves, Isabel, Neves, João Farela, Capilna, Brindusa Ruxandra, Jesenak, Milos, Petrovicova, Otilia, Kopač, Peter, Gonzalez-Granado, Luis Ignacio, Parra-Martínez, Alba, Sánchez-Ramón, Silvia, Solanich, Xavier, Ekwall, Olov, Fasth, Anders, Heininger, Ulrich, Holbro, Andreas, Jandus, Peter, Steiner, Urs C., Bredius, Robbert G., Potjewijd, Judith, van Aerde, Koen J., Aydemir, Sezin, Dogu, Figen, Kiykim, Ayca, Kutukculer, Necil, UNAL, Ekrem, Boyarchuk, Oksana, Alachkar, Hana, Baxendale, Helen E., Coulter, Tanya I., Goddard, Sarah, Gompels, Mark M., Grigoriadou, Sofia, Herriot, Richard, Waruiru, Catherine, Bourne, Helen
Published in Journal of allergy and clinical immunology (01.11.2021)
Published in Journal of allergy and clinical immunology (01.11.2021)
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