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

par Sharapova, Svetlana O., Golovataya, Elena I., Shepelevich, Elena V., Mareika, Yuliya E., Guryanova, Irina E., Stegantseva, Maria V., Aleinikova, Olga V.
Publié dans Cent Eur J Immunol (2021)

Arthritis in Two Patients With Partial Recombination Activating Gene Deficiency

par Wu, Kevin Y., Purswani, Pooja, Ujhazi, Boglarka, Csomos, Krisztian, Snezhina, Mihailova, Elissaveta, Naumova, Stefanov, Stefan, Sharapova, Svetlana, Ellison, Maryssa, Milojevic, Diana, Savic, Sinisa, Sargur, Ravishankar, Walter, Jolan E.
Publié dans Front Pediatr (2019)

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

par 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.
Publié dans Front Immunol (2020)

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

par 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
Publié dans J Clin Immunol (2021)

Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis

par Bosticardo, Marita, Yamazaki, Yasuhiro, Cowan, Jennifer, Giardino, Giuliana, Corsino, Cristina, Scalia, Giulia, Prencipe, Rosaria, Ruffner, Melanie, Hill, David A., Sakovich, Inga, Yemialyanava, Irma, Tam, Jonathan S., Padem, Nurcicek, Elder, Melissa E., Sleasman, John W., Perez, Elena, Niebur, Hana, Seroogy, Christine M., Sharapova, Svetlana, Gebbia, Jennifer, Kleiner, Gary Ira, Peake, Jane, Abbott, Jordan K., Gelfand, Erwin W., Crestani, Elena, Biggs, Catherine, Butte, Manish J., Hartog, Nicholas, Hayward, Anthony, Chen, Karin, Heimall, Jennifer, Seeborg, Filiz, Bartnikas, Lisa M., Cooper, Megan A., Pignata, Claudio, Bhandoola, Avinash, Notarangelo, Luigi D.
Publié dans Am J Hum Genet (2019)

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

par 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.
Publié dans Front Immunol (2021)

Prevalence and clinical challenges among adult primary immunodeficiency patients with RAG deficiency

par Lawless, Dylan, Geier, Christoph B., Farmer, Jocelyn R., Lango, Hana Allen, Thwaites, Daniel, Atschekzei, Faranaz, Brown, Matthew, Buchbinder, David, Burns, Siobhan O., Butte, Manish J., Csomos, Krisztian, Deevi, Sri V.V., Egner, William, Ehl, Stephan, Eibl, Martha M., Fadugba, Olajumoke, Foldvari, Zsofia, Green, Deanna M., Henrickson, Sarah E., Holland, Steven M., John, Tami, Klemann, Christian, Kuijpers, Taco W., Moreira, Fernando, Piller, Alexander, Rayner-Matthews, Paula, Romberg, Neil D., Sargur, Ravishankar, Schmidt, Reinhold E., Schröder, Claudia, Schuetz, Catharina, Sharapova, Svetlana O., Smith, Ken G.C., Sogkas, Georgios, Speckmann, Carsten, Stirrups, Kathleen, Thrasher, Adrian J., Wolf, Hermann M., Notarangelo, Luigi D., Anwar, Rashida, Boyes, Joan, Ujhazi, Boglarka, Thaventhiran, James, Walter, Jolan E., Savic, Sinisa
Publié dans J Allergy Clin Immunol (2018)

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

par 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.
Publié dans Front Immunol (2020)

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

par 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
Publié dans Front Immunol (2018)

Dairying, diseases and the evolution of lactase persistence in Europe

par Evershed, Richard P., Davey-Smith, George, Roffet-Salque, Mélanie, Timpson, Adrian, Diekmann, Yoan, Lyon, Matthew S., Cramp, Lucy J. E., Casanova, Emmanuelle, Smyth, Jessica, Whelton, Helen L., Dunne, Julie, Brychova, Veronika, Šoberl, Lucija, Gerbault, Pascale, Gillis, Rosalind E., Heyd, Volker, Johnson, Emily, Kendall, Iain, Manning, Katie, Marciniak, Arkadiusz, Outram, Alan K., Vigne, Jean-Denis, Shennan, Stephen, Bevan, Andrew, Colledge, Sue, Allason-Jones, Lyndsay, Amkreutz, Luc, Anders, Alexandra, Arbogast, Rose-Marie, Bălăşescu, Adrian, Banffy, Eszter, Barclay, Alistair, Behrens, Anja, Bogucki, Peter, Alonso, Ángel Carrancho, Carretero, José Miguel, Cavanagh, Nigel, Classen, Erich, Giraldo, Hipolito Collado, Conrad, Matthias, Csengeri, Piroska, Czerniak, Lech, Dębiec, Maciej, Denaire, Anthony, Domboróczki, László, Donald, Christina, Ebert, Julia, Evans, Christopher, Francés-Negro, Marta, Gronenborn, Detlef, Haack, Fabian, Halle, Matthias, Hamon, Caroline, Hülshoff, Roman, Ilett, Michael, Iriarte, Eneko, Jakucs, János, Jeunesse, Christian, Johnson, Melanie, Jones, Andy M., Karul, Necmi, Kiosak, Dmytro, Kotova, Nadezhda, Krause, Rudiger, Kretschmer, Saskia, Krüger, Marta, Lefranc, Philippe, Lelong, Olivia, Lenneis, Eva, Logvin, Andrey, Lüth, Friedrich, Marton, Tibor, Marley, Jane, Mortimer, Richard, Oosterbeek, Luiz, Oross, Krisztián, Pavúk, Juraj, Pechtl, Joachim, Pétrequin, Pierre, Pollard, Joshua, Pollard, Richard, Powlesland, Dominic, Pyzel, Joanna, Raczky, Pál, Richardson, Andrew, Rowe, Peter, Rowland, Stephen, Rowlandson, Ian, Saile, Thomas, Sebők, Katalin, Schier, Wolfram, Schmalfuß, Germo, Sharapova, Svetlana, Sharp, Helen, Sheridan, Alison, Shevnina, Irina, Sobkowiak-Tabaka, Iwona, Stadler, Peter, Stauble, Harald, Stobbe, Astrid, Stojanovski, Darko, Tasic, Nenad, van Wijk, Ivo, Vostrovská, Ivana, Vuković, Jasna, Wolfram, Sabine, Zeeb-Lanz, Andrea, Thomas, Mark G.
Publié dans Nature (2022)