Nijmegen breakage syndrome in two half sibs with peripheral T-cell lymphoma and cortical T-cell acute lymphoid leukemia

por Sharapova, Svetlana O., Golovataya, Elena I., Shepelevich, Elena V., Mareika, Yuliya E., Guryanova, Irina E., Stegantseva, Maria V., Aleinikova, Olga V.
Publicado 2021

Vasculitis as a Major Morbidity Factor in Patients With Partial RAG Deficiency

por 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, Özen, Seza, Byram, Kevin, Fernandez, James, Wolf, Hermann M., Eibl, Martha M., Notarangelo, Luigi D., Calabrese, Leonard H., Walter, Jolan E.
Publicado 2020

Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50

por Fliegauf, Manfred, Kinnunen, Matias, Posadas-Cantera, Sara, Camacho-Ordonez, Nadezhda, Abolhassani, Hassan, Alsina, Laia, Atschekzei, Faranaz, Bogaert, Delfien J., Burns, Siobhan O., Church, Joseph A., Dückers, Gregor, Freeman, Alexandra F., Hammarström, Lennart, Hanitsch, Leif Gunnar, Kerre, Tessa, Kobbe, Robin, Sharapova, Svetlana O., Siepermann, Kathrin, Speckmann, Carsten, Steiner, Sophie, Verma, Nisha, Walter, Jolan E., Westermann-Clark, Emma, Goldacker, Sigune, Warnatz, Klaus, Varjosalo, Markku, Grimbacher, Bodo
Publicado 2022

Variable CD18 expression in a 22‐year‐old female with leukocyte adhesion deficiency I: Clinical case and literature review

por Bondarenko, Anastasiia V., Boyarchuk, Oksana R., Sakovich, Inga S., Polyakova, Ekaterina A., Migas, Alexander A., Kupchinskaya, Aleksandra N., Opalinska, Aleksandra, Reich, Adam, Volianska, Liubov, Hilfanova, Anna M., Lapiy, Fedir I., Chernyshova, Liudmyla I., Volokha, Alla P., Zabara, Dariia V., Belevtsev, Mikhail V., Shman, Tatsiana V., Kukharenko, Lyudmila V., Goltsev, Mikhail V., Dubouskaya, Tatsiana G., Hancharou, Andrei Y., Ji, Weizhen, Lakhani, Saquib, Lucas, Carrie L., Aleinikova, Olga V., Sharapova, Svetlana O.
Publicado 2023

Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations

por Giardino, Giuliana, Sharapova, Svetlana O., Ciznar, Peter, Dhalla, Fatima, Maragliano, Luca, Radha Rama Devi, Akella, Islamoglu, Candan, Ikinciogullari, Aydan, Haskologlu, Sule, Dogu, Figen, Hanna-Wakim, Rima, Dbaibo, Ghassan, Chou, Janet, Cirillo, Emilia, Borzacchiello, Carla, Kreins, Alexandra Y., Worth, Austen, Rota, Ioanna A., Marques, José G., Sayitoglu, Muge, Firtina, Sinem, Mahdi, Moaffaq, Geha, Raif, Neven, Bénédicte, Sousa, Ana E., Benfenati, Fabio, Hollander, Georg A., Davies, E. Graham, Pignata, Claudio
Publicado 2021

Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5

por 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.
Publicado 2021

The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries

por 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.
Publicado 2020

Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia

por Zielen, Stefan, Duecker, Ruth Pia, Woelke, Sandra, Donath, Helena, Bakhtiar, Sharhzad, Buecker, Aileen, Kreyenberg, Hermann, Huenecke, Sabine, Bader, Peter, Mahlaoui, Nizar, Ehl, Stephan, El-Helou, Sabine M., Pietrucha, Barbara, Plebani, Alessandro, van der Flier, Michiel, van Aerde, Koen, Kilic, Sara S., Reda, Shereen M., Kostyuchenko, Larysa, McDermott, Elizabeth, Galal, Nermeen, Pignata, Claudio, Pérez, Juan Luis Santos, Laws, Hans-Juergen, Niehues, Tim, Kutukculer, Necil, Seidel, Markus G., Marques, Laura, Ciznar, Peter, Edgar, John David M., Soler-Palacín, Pere, von Bernuth, Horst, Krueger, Renate, Meyts, Isabelle, Baumann, Ulrich, Kanariou, Maria, Grimbacher, Bodo, Hauck, Fabian, Graf, Dagmar, Granado, Luis Ignacio Gonzalez, Prader, Seraina, Reisli, Ismail, Slatter, Mary, Rodríguez-Gallego, Carlos, Arkwright, Peter D., Bethune, Claire, Deripapa, Elena, Sharapova, Svetlana O., Lehmberg, Kai, Davies, E. Graham, Schuetz, Catharina, Kindle, Gerhard, Schubert, Ralf
Publicado 2021

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syn...

por 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, Cathébras, Pascal, Cavazzana, Marina, Chandra, Anita, Conti, Francesca, Coulter, Tanya, Devlin, Lisa A., Edgar, J. David M., Faust, Saul, Fischer, Alain, Garcia-Prat, Marina, Hammarström, 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, Pachlopnik Schmid, Jana, 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
Publicado 2018

Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients

por Geier, Christoph B., Ellison, Maryssa, Cruz, Rachel, Pawar, Sumit, Leiss-Piller, Alexander, Zmajkovicova, Katarina, McNulty, Shannon M, Yilmaz, Melis, Evans, Martin Oman, 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, Förster-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, Kojić, Marina, Kołtan, 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.
Publicado 2022