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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:
Saját polcon:
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:
Saját polcon:
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:
Saját polcon:
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