CCL

Összesen 4 találat.
#/oldal:
Részletezés:
Rendezés:

1.

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
Internet cím:Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:

2.

001-es BibID:BIBFORM048686
Első szerző:Gulácsy Vera (infektológus)
Cím:Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome / Vera Gulácsy, Tomas Freiberger, Anna Shcherbina, Malgorzata Pac, Liudmyla Chernyshova, Tadej Avcin, Irina Kondratenko, Larysa Kostyuchenko, Tatjana Prokofjeva, Srdjan Pasic, Ewa Bernatowska, Necil Kutukculerl, Jelena Rascon, Nicolae Iagaru, Cinzia Mazza, Beáta Tóth, Melinda Erdős, Mirjam van der Burg, László Maródi, The J Project Study Group
Dátum:2011
ISSN:0161-5890
Megjegyzések:The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immune deficiency disorder characterized by thrombocytopenia, small platelet size, eczema, recurrent infections, and increased risk of autoimmune disorders and malignancies. WAS is caused by mutations in the WASP gene which encodes WASP, a 502-amino acid protein. WASP plays a critical role in actin cytoskeleton organization and signalling, and functions of immune cells. We present here the results of genetic analysis of patients with WAS from eleven Eastern and Central European (ECE) countries and Turkey. Clinical and haematological information of 87 affected males and 48 carrier females from 77 WAS families were collected. The WASP gene was sequenced from genomic DNA of patients with WAS, as well as their family members to identify carriers. In this large cohort, we identified 62 unique mutations including 17 novel sequence variants. The mutations were scattered throughout the WASP gene and included single base pair changes (17 missense and 11 nonsense mutations), 7 small insertions, 18 deletions, and 9 splice site defects. Genetic counselling and prenatal diagnosis were applied in four affected families. This study was part of the J Project aimed at identifying genetic basis of primary immunodeficiency disease in ECE countries. This report provides the first comprehensive overview of the molecular genetic and demographic features of WAS in ECE.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Molecular Immunology. - 48 : 5 (2011), p. 788-792. -
További szerzők:Freiberger, Tomas Shcherbina, Anna Pac, Malgorzata Chernyshova, Liudmyla Avcin, Tadej Kondratenko, Irina Kostyuchenko, Larysa Prokofjeva, Tatjana Pasic, Srdjan Bernatowska, Ewa Kutukculerl, Necil Rascon, Jelena Iagaru, Nicolae Mazza, Cinzia Lajszné Tóth Beáta (1978-) (molekuláris biológus) Erdős Melinda (1975-) (infektológus, gyermekimmunológus) Burg, Mirjam, van der Maródi László (1949-) (gyermekgyógyász infektológus, immunológus) The J Project Study Group
Pályázati támogatás:TÁMOP-4.2.1/B-09/1/KONV-2010-0007
TÁMOP
Immunhiányos állapotok molekuláris háttere
PD 72445
OTKA
Internet cím:Szerző által megadott URL
DOI
Intézményi repozitóriumban (DEA) tárolt változat
Borító:

3.

001-es BibID:BIBFORM010694
Első szerző:Lajszné Tóth Beáta (molekuláris biológus)
Cím:Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe : a cohort study / Beáta Tóth, Alla Volokha, Alexander Mihas, Malgorzata Pac, Ewa Bernatowska, Irina Kondratenko, Alexander Polyakov, Melinda Erdős, Srdjan Pasic, Michaela Bataneant, Anna Szaflarska, Kristina Mironska, Darko Richter, Katarina Stavrik, Tadej Avcin, Gabriella Márton, Kálmán Nagy, Beáta Dérfalvi, Miklós Szolnoky, Ágnes Kalmár, Michael Belevtsev, Marina Guseva, Aurica Rugina, Gergely Kriván, László Timár, Zoltán Nyul, Bernadett Mosdósi, Lidija Kareva, Sonja Peova, Liudmyla Chernyshova, Ioan Gherghina, Margit Serban, Mary Ellen Conley, Luigi D. Notarangelo, C. I. Edvard Smith, Jacques van Dongen, Mirjam van der Burg, László Maródi
Dátum:2009
ISSN:0161-5890 (Print)
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
egyetemen (Magyarországon) készült közlemény
Megjelenés:Molecular Immunology. - 46 : 10 (2009), p. 2140-2146. -
További szerzők:Volokha, Alla Mihas, Alexander Pac, Malgorzata Bernatowska, Ewa Kondratenko, Irina Polyakov, Alexander Erdős Melinda (1975-) (infektológus, gyermekimmunológus) Pasic, Srdjan Bataneant, Michaela Szaflarska, Anna Mironska, Kristina Richter, Darko Stavrik, Katarina Avcin, Tadej Márton Gabriella Nagy Kálmán Dérfalvy Beáta Szolnoky Miklós Kalmár Ágnes Belevtsev, Michael Guseva, Marina Rugina, Aurica Kriván Gergely Tímár László Nyúl Zoltán Mosdósi Bernadett Kareva, Lidija Peova, Sonja Chernyshova, Liudmyla Gherghina, Ioan Serban, Margit Conley, Mary Ellen Notarangelo, Luigi D. Smith, Edvard C. I. Dongen, Jacques, van Burg, Mirjam, van der Maródi László (1949-) (gyermekgyógyász infektológus, immunológus)
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
DOI
Borító:

4.

001-es BibID:BIBFORM013549
Első szerző:Roos, Dirk
Cím:Hematologically important mutations : X-linked chronic granulomatous disease (third update) / Dirk Roos, Douglas B. Kuhns, Anne Maddalena, Joachim Roesler, Juan Alvaro Lopez, Tadashi Ariga, Tadej Avcin, Martin de Boer, Jacinta Bustamante, Antonio Condino-Neto, Gigliola Di Matteo, Jianxin He, Harry R. Hill, Steven M. Holland, Caroline Kannengiesser, M. Yavuz Köker, Irina Kondratenko, Karin van Leeuwen, Harry L. Malech, László Marodi, Hiroyuki Nunoi, Marie-José Stasia, Anna Maria Ventura, Carl T. Witwer, Baruch Wolach, John I. Gallin
Dátum:2010
ISSN:1079-9796
Megjegyzések:Chronic granulomatous disease (CGD) is an immunodeficiency disorder affecting about 1 in 250,000 individuals. The disease is caused by a lack of superoxide production by the leukocyte enzyme NADPH oxidase. Superoxide is used to kill phagocytosed micro-organisms in neutrophils, eosinophils, monocytes and macrophages. The leukocyte NADPH oxidase is composed of five subunits, of which the enzymatic component is gp91-phox, also called Nox2. This protein is encoded by the CYBB gene on the X chromosome. Mutations in this gene are found in about 70% of all CGD patients. This article lists all mutations identified in CYBB in the X-linked form of CGD. Moreover, apparently benign polymorphisms in CYBB are also given, which should facilitate the recognition of future disease-causing mutations.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Blood Cells Molecules And Diseases. - 45 : 3 (2010), p. 246-265. -
További szerzők:Kuhns, Douglas B. Maddalena, Anne Roesler, Joachim Lopez, Juan Alvaro Ariga, Tadashi Avcin, Tadej Bustamante, Jacinta Condino-Neto, Antonio Matteo, Gigliola He, Jianxin Hill, Harry R. Holland, Steven M. Kannengiesser, Caroline Köker, M. Yavuz Kondratenko, Irina van Leeuwen, Karin Malech, Harry L. Maródi László (1949-) (gyermekgyógyász infektológus, immunológus) Nunoi, Hiroyuki Stasia, Marie-José Ventura, Anna Maria Witwer, Carl T. Wolach, Baruch Gallin, John
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
DOI
Borító:
Rekordok letöltése1