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001-es BibID:BIBFORM106202
035-os BibID:(WOS)000906505300001 (Scopus)85145501296 (Pubmed)36605210
Első szerző:Abolhassani, Hassan
Cím:Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021 / Hassan Abolhassani, Tadej Avcin, Nerin Bahceciler, Dmitry Balashov, Zsuzsanna Bata, Mihaela Bataneant, Mikhail Belevtsev, Ewa Bernatowska, Judit Bidlo, 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, Brigitta Sitkaustiene, Irina Snimshchikova, Shqipe Spahiu-Konjusha, Miklós Szolnoky, Gabriella Szűcs, Natasa Toplak, Beáta Tóth, Galina Tsyvkina, Irina Tuzankina, Elena Vlasova, Alla Volokha
Dátum:2022
ISSN:1664-3224
Megjegyzések:The 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)-focused meetings were organized by the JP to raise awareness and facilitate the diagnosis and treatment of patients with IEI. In this study, meeting profiles and major diagnostic and treatment parameters were studied. JP center leaders reported patients' data from 30 countries representing a total population of 506 567 565. Two countries reported patients from JP centers (Konya, Turkey and Cairo University, Egypt). Diagnostic criteria were based on the 2020 update of classification by the IUIS Expert Committee on IEI. The number of JP meetings increased from 6 per year in 2004 and 2005 to 44 and 63 in 2020 and 2021, respectively. The cumulative number of meetings per country varied from 1 to 59 in various countries reflecting partly but not entirely the population of the respective countries. Altogether, 24,879 patients were reported giving an average prevalence of 4.9. Most of the patients had predominantly antibody deficiency (46,32%) followed by patients with combined immunodeficiencies (14.3%). The percentages of patients with bone marrow failure and phenocopies of IEI were less than 1 each. The number of patients was remarkably higher that those reported to the ESID Registry in 13 countries. Immunoglobulin (IgG) substitution was provided to 7,572 patients (5,693 intravenously) and 1,480 patients received hematopoietic stem cell therapy (HSCT). Searching for basic diagnostic parameters revealed the availability of immunochemistry and flow cytometry in 27 and 28 countries, respectively, and targeted gene sequencing and new generation sequencing was available in 21 and 18 countries. The number of IEI centers and experts in the field were 260 and 690, respectively.We found high correlation between the number of IEI centers and patients treated with intravenous IgG (IVIG) (correlation coefficient, cc, 0,916) and with those who were treated with HSCT (cc, 0,905). Similar correlation was found when the number of experts was compared with those treated with HSCT. However, the number of patients treated with subcutaneous Ig (SCIG) only slightly correlated with the number of experts (cc, 0,489) and no correlation was found between the number of centers and patients on SCIG (cc, 0,174).
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
folyóiratcikk
Megjelenés:Frontiers in Immunology. - 13 : 13 (2022), p. 1-14. -
További szerzők:Avcin, Tadej Bahceciler, Nerin Balashov, Dmitry Bata Zsuzsanna Bataneant, Michaela Belevtsev, Michael Bernatowska, Ewa Bidló Judit Blazsó Péter Boisson, Bertrand Bolkov, Mikhail Bondarenko, Anastasia Boyarchuk, Oksana Bundschu, Anna Casanova, Jean-Laurent Chernishova, Liudmyla Ciznar, Peter Csürke Ildikó Erdős Melinda (1975-) (infektológus, gyermekimmunológus) Farkas Henriette Fomina, Daria S. Galal, Nermeen Goda Vera Guner, Sukru Nail Hauser Péter Ilyina, Natalya I. Iremadze, Teona Iritsyan, Sevan Ismaili-Jaha, Vlora Jesenak, Milos Kelecic, Jadranka Keles, Sevgi Kindle, Gerhard Kondratenko, Irina V. Kostyuchenko, Larysa Kovzel, Elena Kriván Gergely Kuli-Lito, Georgina Kumánovics Gábor Kurjane, Natalja Latysheva, Elena A. Latysheva, Tatiana V. Lázár István (1986-) (geográfus) Markelj, Gasper Markovic, Maja Maródi László (1949-) (gyermekgyógyász infektológus, immunológus) Mammadova, Vafa Medvecz Márta Miltner Noémi (1990-) (molekuláris biológus) Mironska, Kristina Modell, Fred Modell, Vicki Mosdósi Bernadett Mukhina, Anna A. Murdjeva, Marianna Műzes Györgyi Nabieva, Umida Nasrullayeva, Gulnara Naumova, Elissaveta Nagy Kálmán Ónozó Beáta Orozbekova, Bubusaira Pac, Malgorzata Pagava, Karaman Pampura, Alexander N. Pasic, Srdjan Petrosyan, Mery Petrovic, Gordana Pocek, Lidija Prodeus, Andrei P. Reisli, Ismail Ress, Krista Rezaei, Nima Rodina, Yulia A. Rumyantsev, Alexander G. Sciuca, Svetlana Sediva, Anna Serban, Margit Sharapova, Svetlana Shcherbina, Anna Sitkaustiene, Brigita Snimshchikova, Irina Spahiu-Konjusha, Shqipe Szolnoky Miklós Szűcs Gabriella (1963-) (belgyógyász, allergológus és klinikai immunológus, reumatológus) Toplak, Nataŝa Lajszné Tóth Beáta (1978-) (molekuláris biológus) Tsyvkina, Galina Tuzankina, Irina Vlasova, Elena Volokha, Alla
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2.

001-es BibID:BIBFORM028227
Első szerző:Liu, Luyan
Cím:Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis / Luyan Liu, Satoshi Okada, Xiao-Fei Kong, Alexandra Y. Kreins, Sophie Cypowyj, Avinash Abhyankar, Julie Toubiana, Yuval Itan, Magali Audry, Patrick Nitschke, Cécile Masson, Beata Toth, Jérome Flatot, Mélanie Migaud, Maya Chrabieh, Tatiana Kochetkov, Alexandre Bolze, Alessandro Borghesi, Antoine Toulon, Julia Hiller, Stefanie Eyerich, Kilian Eyerich, Vera Gulácsy, Liudmyla Chernyshova, Viktor Chernyshov, Anastasia Bondarenko, Rosa María Cortés Grimaldo, Lizbeth Blancas-Galicia, Ileana Maria Madrigal Beas, Joachim Roesler, Klaus Magdorf, Dan Engelhard, Caroline Thumerelle, Pierre-Régis Burgel, Miriam Hoernes, Barbara Drexel, Reinhard Seger, Theresia Kusuma, Annette F. Jansson, Julie Sawalle-Belohradsky, Bernd Belohradsky, Emmanuelle Jouanguy, Jacinta Bustamante, Mélanie Bué, Nathan Karin, Gizi Wildbaum, Christine Bodemer, Olivier Lortholary, Alain Fischer, Stéphane Blanche, Saleh Al-Muhsen, Janine Reichenbach, Masao Kobayashi, Francisco Espinosa Rosales, Carlos Torres Lozano, Sara Sebnem Kilic, Matias Oleastro, Amos Etzioni, Claudia Traidl-Hoffmann, Ellen D. Renner, Laurent Abel, Capucine Picard, László Maródi, Stéphanie Boisson-Dupuis, Anne Puel, Jean-Laurent Casanova
Dátum:2011
Megjegyzések:Chronic mucocutaneous candidiasis disease (CMCD) may be caused by autosomal dominant (AD) IL-17F deficiency or autosomal recessive (AR) IL-17RA deficiency. Here, using whole-exome sequencing, we identified heterozygous germline mutations in STAT1 in 47 patients from 20 kindreds with AD CMCD. Previously described heterozygous STAT1 mutant alleles are loss-of-function and cause AD predisposition to mycobacterial disease caused by impaired STAT1-dependent cellular responses to IFN-γ. Other loss-of-function STAT1 alleles cause AR predisposition to intracellular bacterial and viral diseases, caused by impaired STAT1-dependent responses to IFN-α/β, IFN-γ, IFN-?, and IL-27. In contrast, the 12 AD CMCD-inducing STAT1 mutant alleles described here are gain-of-function and increase STAT1-dependent cellular responses to these cytokines, and to cytokines that predominantly activate STAT3, such as IL-6 and IL-21. All of these mutations affect the coiled-coil domain and impair the nuclear dephosphorylation of activated STAT1, accounting for their gain-of-function and dominance. Stronger cellular responses to the STAT1-dependent IL-17 inhibitors IFN-α/β, IFN-γ, and IL-27, and stronger STAT1 activation in response to the STAT3-dependent IL-17 inducers IL-6 and IL-21, hinder the development of T cells producing IL-17A, IL-17F, and IL-22. Gain-of-function STAT1 alleles therefore cause AD CMCD by impairing IL-17 immunity.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Molekuláris Medicina
Megjelenés:The Journal of Experimental Medicine 208 : 8 (2011), p. 1635-1648. -
További szerzők:Okada, Satoshi Kong, Xiao-Fei Kreins, Alexandra Y. Cypowyj, Sophie Abhyankar, Avinash Toubiana, Julie Itan, Yuval Audry, Magali Nitschke, Patrick Masson, Cécile Lajszné Tóth Beáta (1978-) (molekuláris biológus) Flatot, Jérome Migaud, Mélanie Chrabieh, Maya Kochetkov, Tatiana Bolze, Alexandre Borghesi, Alessandro Toulon, Antoine Hiller, Julia Eyerich, Stefanie Eyerich, Kilian Gulácsy Vera (1982-) (infektológus) Chernyshova, Liudmyla Chernyshov, Viktor Bondarenko, Anastasia Cortés Grimaldo, Rosa María Blancas-Galicia, Lizbeth Madrigal Beas, Ileana Maria Roesler, Joachim Magdorf, Klaus Engelhard, Dan Thumerelle, Caroline Burgel, Pierre-Régis Hoernes, Miriam Drexel, Barbara Seger, Reinhard Kusuma, Theresia Jansson, Annette F. Sawalle-Belohradsky, Julie Belohradsky, Bernd Jouanguy, Emmanuelle Bustamante, Jacinta Bué, Mélanie Karin, Nathan Wildbaum, Gizi Bodemer, Christine Lortholary, Olivier Fischer, Alain Blanche, Stéphane Al-Muhsen, Saleh Reichenbach, Jeanine Kobayashi, Masao Espinosa Rosales, Francisco Lozano, Carlos Torres Sebnem Kilic, Sara Matias, Oleastro Etzioni, Amos Traidl-Hoffmann, Claudia Renner, Ellen D. Abel, Laurent Picard, Capucine Maródi László (1949-) (gyermekgyógyász infektológus, immunológus) Boisson-Dupuis, Stéphanie Puel, Anne Jean-Laurent Casanova
Pályázati támogatás:TÁMOP-4.2.1./B-09/1/KONV-2010-0007
TÁMOP
TÁMOP-4.2.1/B-09/1/KONV-2010-0007
TÁMOP
Célzott génszekvenálás és a génterápia feltételeinek megteremtése néhány primer immundefektusban
TÁMOP-4.2.2/08/1/2008-0015
TÁMOP
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3.

001-es BibID:BIBFORM068042
Első szerző:Pistár Zsuzsanna
Cím:STAT3 Mutational Spectrum of Newly Diagnosed Patients with HIES from Eastern and Central European Countries / Pistár Zsuzsanna, Kondratenko Irina, Maszárovics Zoltán, Chernyshova Liudmyla, Bondarenko Anastasia, Guseva Marina, Kostyuchenko Larissa, Romanyshyn Ygor, Soltész Beáta, Sarkadi Adrien Katalin, Maródi László, Tóth Beáta
Dátum:2014
Tárgyszavak:Orvostudományok Klinikai orvostudományok idézhető absztrakt
Megjelenés:Journal of Clinical Immunology 34 : Suppl. 2 (2014), p. S462. -
További szerzők:Kondratenko, Irina Maszárovics Zoltán Chernyshova, Liudmyla Bondarenko, Anastasia Guseva, Marina Kostyuchenko, Larysa Romanyshyn, Ygor Soltész Beáta (1987-) (molekuláris biológus) Sarkadi Adrien Katalin (1986-) (orvos) Maródi László (1949-) (gyermekgyógyász infektológus, immunológus) Lajszné Tóth Beáta (1978-) (molekuláris biológus)
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4.

001-es BibID:BIBFORM046568
Első szerző:Soltész Beáta (molekuláris biológus)
Cím:New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe / Beáta Soltész, Beáta Tóth, Nadejda Shabashova, Anastasia Bondarenko, Satoshi Okada, Sophie Cypowyj, Avinash Abhyankar, Gabriella Csorba, Szilvia Taskó, Adrien Katalin Sarkadi, Leonóra Méhes, Pavel Rozsíval, David Neumann, Liudmyla Chernyshova, Zsolt Tulassay, Anne Puel, Jean-Laurent Casanova, Anna Sediva, Jiri Litzman, László Maródi
Dátum:2013
ISSN:0022-2593
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Journal of Medical Genetics. - 50 : 9 (2013), p. 567-578. -
További szerzők:Lajszné Tóth Beáta (1978-) (molekuláris biológus) Shabashova, Nadejda Bondarenko, Anastasia Okada, Satoshi Cypowyj, Sophie Abhyankar, Avinash Csorba Gabriella Éva (1978-) (gyermekgyógyász) Taskó Szilvia (1977-) (labor aszisztens) Sarkadi Adrien Katalin (1986-) (orvos) Méhes Leonóra (1976-) (orvos) Rozsíval, Pavel Neumann David Chernyshova, Liudmyla Tulassay Zsolt (1944-) (belgyógyász, gasztroenterológus) Puel, Anne Casanova, Jean-Laurent Sediva, Anna Litzman, Jiri Maródi László (1949-) (gyermekgyógyász infektológus, immunológus)
Pályázati támogatás:TÁMOP-4.2.2.A-11/1/KONV-2012-0023'VÉD-ELEM'
TÁMOP
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