Severe congenital T-lymphocytopenia may affect the outcome of neonatal intensive care

Autor: Ivana Hulinkova, Veronika Medova, Andrea Soltysova, Veronika Dobsinska, Andrej Ficek, Peter Ciznar

Publikováno v: Biomedical Papers, Vol 168, Iss 3, Pp 235-242 (2024)

Aim. Circular DNA segments TREC (T-cell receptor excision circles) formed during T-lymphocyte maturation in the thymus, are a sensitive marker of thymic lymphocyte production in a broader manner. Quantification using qPCR is proposed as a surrogate m

Externí odkaz: https://doaj.org/article/e6d82a9924674667979527f427b99df8

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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

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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

Autor: Svetlana O. Sharapova, Małgorzata Skomska-Pawliszak, Yulia A. Rodina, Beata Wolska-Kuśnierz, Nel Dabrowska-Leonik, Bozena Mikołuć, Olga E. Pashchenko, Srdjan Pasic, Tomáš Freiberger, Tomáš Milota, Renata Formánková, Anna Szaflarska, Maciej Siedlar, Tadej Avčin, Gašper Markelj, Peter Ciznar, Krzysztof Kalwak, Sylwia Kołtan, Teresa Jackowska, Katarzyna Drabko, Alenka Gagro, Małgorzata Pac, Elissaveta Naumova, Snezhina Kandilarova, Katarzyna Babol-Pokora, Dzmitry S. Varabyou, Barbara H. Barendregt, Elena V. Raykina, Tatiana V. Varlamova, Anna V. Pavlova, Hana Grombirikova, Maruša Debeljak, Irina V. Mersiyanova, Anastasiia V. Bondarenko, Liudmyla I. Chernyshova, Larysa V. Kostyuchenko, Marina N. Guseva, Jelena Rascon, Audrone Muleviciene, Egle Preiksaitiene, Christoph B. Geier, Alexander Leiss-Piller, Yasuhiro Yamazaki, Tomoki Kawai, Jolan E. Walter, Irina V. Kondratenko, Anna Šedivá, Mirjam van der Burg, Natalia B. Kuzmenko, Luigi D. Notarangelo, Ewa Bernatowska, Olga V. Aleinikova

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

Background: Variants in recombination-activating genes (RAG) are common genetic causes of autosomal recessive forms of combined immunodeficiencies (CID) ranging from severe combined immunodeficiency (SCID), Omenn syndrome (OS), leaky SCID, and CID wi

Externí odkaz: https://doaj.org/article/9b03aece41064fa7ac129d44af5c221a