Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021

Autor: Hassan Abolhassani, Tadej Avcin, Nerin Bahceciler, Dmitry Balashov, Zsuzsanna Bata, Mihaela Bataneant, Mikhail Belevtsev, Ewa Bernatowska, Judit Bidló, Péter Blazsó, Bertrand Boisson, Mikhail Bolkov, Anastasia Bondarenko, Oksana Boyarchuk, Anna Bundschu, Jean-Laurent Casanova, Liudmyla Chernishova, Peter Ciznar, Ildikó Csürke, Melinda Erdős, Henriette Farkas, Daria S. Fomina, Nermeen Galal, Vera Goda, Sukru Nail Guner, Péter Hauser, Natalya I. Ilyina, Teona Iremadze, Sevan Iritsyan, Vlora Ismaili-Jaha, Milos Jesenak, Jadranka Kelecic, Sevgi Keles, Gerhard Kindle, Irina V. Kondratenko, Larysa Kostyuchenko, Elena Kovzel, Gergely Kriván, Georgina Kuli-Lito, Gábor Kumánovics, Natalja Kurjane, Elena A. Latysheva, Tatiana V. Latysheva, István Lázár, Gasper Markelj, Maja Markovic, László Maródi, Vafa Mammadova, Márta Medvecz, Noémi Miltner, Kristina Mironska, Fred Modell, Vicki Modell, Bernadett Mosdósi, Anna A. Mukhina, Marianna Murdjeva, Györgyi Műzes, Umida Nabieva, Gulnara Nasrullayeva, Elissaveta Naumova, Kálmán Nagy, Beáta Onozó, Bubusaira Orozbekova, Malgorzata Pac, Karaman Pagava, Alexander N. Pampura, Srdjan Pasic, Mery Petrosyan, Gordana Petrovic, Lidija Pocek, Andrei P. Prodeus, Ismail Reisli, Krista Ress, Nima Rezaei, Yulia A. Rodina, Alexander G. Rumyantsev, Svetlana Sciuca, Anna Sediva, Margit Serban, Svetlana Sharapova, Anna Shcherbina, Brigita Sitkauskiene, Irina Snimshchikova, Shqipe Spahiu-Konjusha, Miklós Szolnoky, Gabriella Szűcs, Natasa Toplak, Beáta Tóth, Galina Tsyvkina, Irina Tuzankina, Elena Vlasova, Alla Volokha

Publikováno v: Frontiers in Immunology, Vol 13 (2022)

IntroductionThe J Project (JP) physician education and clinical research collaboration program was started in 2004 and includes by now 32 countries mostly in Eastern and Central Europe (ECE). Until the end of 2021, 344 inborn errors of immunity (IEI)

Externí odkaz: https://doaj.org/article/1e2baf3d28f7485d8e4a9157d356a4b0

Primary Immunodeficiencies in Russia: Data From the National Registry

Autor: Anna A. Mukhina, Natalya B. Kuzmenko, Yulia A. Rodina, Irina V. Kondratenko, Andrei A. Bologov, Tatiana V. Latysheva, Andrei P. Prodeus, Alexander N. Pampura, Dmitrii N. Balashov, Natalya I. Ilyina, Elena A. Latysheva, Ekaterina A. Deordieva, Oksana A. Shvets, Elena V. Deripapa, Irina N. Abramova, Olga E. Pashenko, Svetlana S. Vahlyarskaya, Natalya V. Zinovyeva, Sergei B. Zimin, Elena V. Skorobogatova, Elena B. Machneva, Daria S. Fomina, Maria G. Ipatova, Ludmila Yu. Barycheva, Ludmila S. Khachirova, Irina A. Tuzankina, Michail A. Bolkov, Natalya V. Shakhova, Elena M. Kamaltynova, Farida I. Sibgatullina, Marina N. Guseva, Raisa N. Kuznetsova, Anzhelika M. Milichkina, Areg A. Totolian, Natalia M. Kalinina, Evgenia A. Goltsman, Ekatherina I. Sulima, Anastasia Yu. Kutlyanceva, Anna A. Moiseeva, Anna L. Khoreva, Zoya Nesterenko, Elena V. Tymofeeva, A. Ermakova, Dilyara D. Proligina, Linara R. Kalmetieva, Gulshat A. Davletbaieva, Irina A. Mirsayapova, Olga A. Richkova, Ksenia P. Kuzmicheva, Maria A. Grakhova, Natalya B. Yudina, Ekaterina A. Orlova, Olga S. Selezneva, Svetlana G. Piskunova, Tatiana V. Samofalova, Tatiana V. Bukina, Anna D. Pechkurova, N. Migacheva, A. Zhestkov, Elena V. Barmina, Natalya A. Parfenova, Svetlana N. Isakova, Elena V. Averina, Irina V. Sazonova, Svetlana Yu. Starikova, Tatiana V. Shilova, Tatiana V. Asekretova, Roman N. Suprun, Elena I. Kleshchenko, Vladimir V. Lebedev, Elena V. Demikhova, Valerii G. Demikhov, Veronica A. Kalinkina, Alla V. Gorenkova, Svetlana N. Duryagina, Tatiana B. Pavlova, Vera M. Shinkareva, Irina V. Smoleva, Tatiana P. Aleksandrova, Zema V. Bambaeva, Marina A. Philippova, Elena M. Gracheva, Galina I. Tcyvkina, Alexey V. Efremenkov, D. Mashkovskaya, Irina V. Yarovaya, Valentina A. Alekseenko, Ivan V. Fisyun, Galina V. Molokova, Ekatherina V. Troitskya, Ludmila I. Piatkina, Elena V. Vlasova, O. Ukhanova, Ekaterina G. Chernishova, M. Vasilieva, Olga M. Laba, E. Volodina, Ekaterina V. Safonova, Kirill A. Voronin, Maria V. Gurkina, Alexander G. Rumyantsev, Galina A. Novichkova, Anna Yu. Shcherbina

Publikováno v: Frontiers in Immunology, Vol 11 (2020)

Introduction: Primary immunodeficiencies (PID) are a group of rare genetic disorders with a multitude of clinical symptoms. Characterization of epidemiological and clinical data via national registries has proven to be a valuable tool of studying the

Externí odkaz: https://doaj.org/article/6acca441337f4d1798744e22d3851bfe

Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and

Autor: Svetlana O, Sharapova, Olga E, Pashchenko, Anastasiia V, Bondarenko, Svetlana S, Vakhlyarskaya, Tatjana, Prokofjeva, Alina S, Fedorova, Ihor, Savchak, Yuliya, Mareika, Timur T, Valiev, Alexander, Popa, Irina A, Tuzankina, Elena V, Vlasova, Inga S, Sakovich, Ekaterina A, Polyakova, Natalia V, Rumiantseva, Irina V, Naumchik, Svetlana A, Kulyova, Svetlana N, Aleshkevich, Elena I, Golovataya, Nina V, Minakovskaya, Mikhail V, Belevtsev, Elena A, Latysheva, Tatiana V, Latysheva, Alexander G, Beznoshchenko, Hayane, Akopyan, Halyna, Makukh, Olena, Kozlova, Dzmitry S, Varabyou, Mark, Ballow, Mei-Sing, Ong, Jolan E, Walter, Irina V, Kondratenko, Larysa V, Kostyuchenko, Olga V, Aleinikova

Publikováno v: Frontiers in Immunology

Nijmegen breakage syndrome (NBS) is a DNA repair disorder characterized by combined immunodeficiency and a high predisposition to lymphoid malignancies. The majority of NBS patients are identified with a homozygous five base pair deletion in the Nibr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::07bb64b76511e1b8ee8669a35905644f
https://pubmed.ncbi.nlm.nih.gov/33488600