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

Autor:	Abolhassani H; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Avcin T; Children's Hospital, University Medical Center Ljubljana, Ljubljana, Slovenia., Bahceciler N; Division of Pediatric Allergy and Immunology, Near East University, Nicosia, Cyprus., Balashov D; Department of Hematopoietic Stem Cell Transplantation, Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Bata Z; Department of Dermatology and Allergology, University of Szeged, Szeged, Hungary., Bataneant M; Department of Immunology, Clinical Emergency Paediatric Hospital Louis Turcanu, Timisoara, Romania., Belevtsev M; Immunology Department, Belarussian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus., Bernatowska E; Department of Immunology, The Children's Memorial Health Institute, Warsaw, Poland., Bidló J; National Health Insurance Fund Administration, Budapest, Hungary., Blazsó P; Department of Pediatrics, University of Szeged, Szeged, Hungary., Boisson B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, United States.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Department of Pediatrics, Necker Hospital for Sick Children, Paris, France.; Howard Hughes Medical Institute, New York, NY, United States., Bolkov M; Institute of Immunology and Physiology of the Ural Branch of the Russian Academy of Sciences, Yekaterinburg, Russia., Bondarenko A; Pediatric Infectious Disease and Pediatric Immunology Department, Shupyk National Healthcare University of Ukraine, Kyiv, Ukraine., Boyarchuk O; Department of Children's Diseases and Pediatric Surgery, I.Horbachevsky Ternopil National Medical University, Ternopil, Ukraine., Bundschu A; National Health Insurance Fund Administration, Budapest, Hungary., Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, United States.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Department of Pediatrics, Necker Hospital for Sick Children, Paris, France.; Howard Hughes Medical Institute, New York, NY, United States., Chernishova L; Pediatric Infectious Disease and Pediatric Immunology Department, Shupyk National Healthcare University of Ukraine, Kyiv, Ukraine., Ciznar P; Department of Pediatrics, University of Bratislava, Bratislava, Slovakia., Csürke I; Department of Pediatrics, Jósa András County Hospital and University Teaching Hospital, Nyíregyháza, Hungary., Erdős M; Primary Immunodeficiency Clinical Unit and Laboratory, Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, Budapest, Hungary., Farkas H; Center for Hereditary Angioedema, Department of Internal Medicine and Hematology, Semmelweis University, Budapest, Hungary., Fomina DS; Department of Clinical Immunology, Sechenov First Moscow State Medical University, Moscow, Russia., Galal N; Pediatrics Department, Faculty of Medicine, Cairo University, Giza, Egypt., Goda V; Department of Pediatric Hematology and Stem Cell Transplantation, Central Hospital of Southern Pest, Budapest, Hungary., Guner SN; Department of Pediatric Immunology, Necmettin Erbakan University, Konya, Turkey., Hauser P; Velkey László Child's Health Center, Borsod-Abaúj-Zemplén County Hospital and University Teaching Hospital, Miskolc, Hungary., Ilyina NI; Department of Pulmonology, National Research Center Institute of Immunology, Federal Biomedical Agency of Russia, Moscow, Russia., Iremadze T; Department of Pulmonology, Iashvili Children's Central Hospital, Tbilisi, Georgia., Iritsyan S; Department of Hematology and Transfusion Medicine, National Institute of Health, Yerevan, Armenia., Ismaili-Jaha V; Pediatric Clinic, Department of Gastroenterology, University Clinical Center of Kosovo Faculty of Medicine, University of Prishtina 'Hasan Prishtina', Pristina, Kosovo., Jesenak M; Department of Pediatrics, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, University Hospital in Martin, Martin, Slovakia., Kelecic J; Department of Pediatrics, Division of Clinical Immunology, Allergology, Respiratory Diseases and Rheumatology, University Hospital Center Zagreb, Zagreb, Croatia., Keles S; Department of Pediatric Immunology, Necmettin Erbakan University, Konya, Turkey., Kindle G; Institute for Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Kondratenko IV; Russian Children's Clinical Hospital of the N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow, Russia., Kostyuchenko L; Department of Pediatric Immunology and Reumatology, Western-Ukrainian Specialized Children's Medical Centre, Lviv, Ukraine., Kovzel E; Program of Clinical Immunology, Allergology and Pulmonology, University Medical Center, Nazarbaev University, Nur-Sultan, Kazakhstan., Kriván G; Department of Pediatric Hematology and Stem Cell Transplantation, Central Hospital of Southern Pest, Budapest, Hungary., Kuli-Lito G; Department of Pediatrics, University Hospital Centre Mother Theresa, Tirana, Albania., Kumánovics G; Department of Rheumatology and Immunology, Faculty of Medicine, University of Pécs, Pécs, Hungary., Kurjane N; Department of Biology and Microbiology, Rīga Stradiņš University, Riga, Latvia., Latysheva EA; Department of Pulmonology, National Research Center Institute of Immunology, Federal Biomedical Agency of Russia, Moscow, Russia., Latysheva TV; Department of Pulmonology, National Research Center Institute of Immunology, Federal Biomedical Agency of Russia, Moscow, Russia., Lázár I; Department of Meteorology, University of Debrecen, Debrecen, Hungary., Markelj G; Children's Hospital, University Medical Center Ljubljana, Ljubljana, Slovenia., Markovic M; Department of Eastern Europe, Octapharma Nordic, Stockholm, Sweden., Maródi L; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, United States.; Department of Pediatrics, Jósa András County Hospital and University Teaching Hospital, Nyíregyháza, Hungary., Mammadova V; Research-Immunology Laboratory, Azerbaijan Medical University, Baku, Azerbaijan., Medvecz M; Department of Pediatrics, Jósa András County Hospital and University Teaching Hospital, Nyíregyháza, Hungary., Miltner N; Department of Biochemistry and Molecular Biology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary., Mironska K; University Clinic for Children's Diseases, Department of Immunology, Faculty of Medicine, University 'St.Cyril and Methodius', Skopje, North Macedonia., Modell F; The Jeffrey Modell Foundation, New York, NY, United States., Modell V; The Jeffrey Modell Foundation, New York, NY, United States., Mosdósi B; Department of Pediatrics, Clinical Center, University of Pécs, Pécs, Hungary., Mukhina AA; Department of Hematopoietic Stem Cell Transplantation, Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Murdjeva M; Department of Microbiology and Immunology, Faculty of Pharmacy, Research Institute, Medical University-Plovdiv, Plovdiv, Bulgaria., Műzes G; Department of Internal Medicine and Hematology, Semmelweis University, Budapest, Hungary., Nabieva U; Institute of Immunology and Human Genomics, Academy of Sciences of the Republic of Uzbekistan, Tashkent, Uzbekistan., Nasrullayeva G; 1-st Pediatric Department, Azerbaijan Medical University, Baku, Azerbaijan., Naumova E; Department of Clinical Immunology, Faculty of Medicine, Alexandrovska Hospital, Medical University, Sofia, Bulgaria., Nagy K; Velkey László Child's Health Center, Borsod-Abaúj-Zemplén County Hospital and University Teaching Hospital, Miskolc, Hungary., Onozó B; Velkey László Child's Health Center, Borsod-Abaúj-Zemplén County Hospital and University Teaching Hospital, Miskolc, Hungary., Orozbekova B; Department of Epidemiology and Immunology, Kyrgyz-Russian Slavic University, Bishkek, Kyrgyzstan., Pac M; Department of Immunology, The Children's Memorial Health Institute, Warsaw, Poland., Pagava K; Department of Child and Adolescent Medicine, Tbilisi State Medical University, Tbilisi, Georgia., Pampura AN; Department of Allergology and Clinical Immunology, Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University of the Russian Ministry of Health, Moscow, Russia., Pasic S; Department of Pediatric Immunology, Mother and Child Health Institute, Belgrade, Serbia., Petrosyan M; Department of Hematology and Transfusion Medicine, Pediatric Cancer and Blood Disorders Center, Yerevan, Armenia., Petrovic G; Department of Pediatric Immunology, Mother and Child Health Institute, Belgrade, Serbia., Pocek L; Department of Allergology, Institute for Children Diseases, Clinical Center of Montenegro, Podgorica, Montenegro., Prodeus AP; Department of Pediatrics, Speransky Children's Municipal Clinical Hospital #9, Moscow, Russia., Reisli I; Department of Pediatric Immunology, Necmettin Erbakan University, Konya, Turkey., Ress K; Department of Pediatrics, Center of Allergology and Immunology, East-Tallinn Central Hospital, Tallinn, Estonia., Rezaei N; Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Rodina YA; Department of Hematopoietic Stem Cell Transplantation, Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Rumyantsev AG; Department of Hematopoietic Stem Cell Transplantation, Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Sciuca S; Department of Pulmonology, Nicolae Testemitanu State University of Medicine and Pharmacy, Chisinau, Moldova., Sediva A; Department of Pulmonology, Motol University Hospital, 2nd Faculty of Medicine, Charles University, Prague, Czechia., Serban M; Academy of Medical Sciences-Research Unit, Clinical Emergency Paediatric Hospital Louis Turcanu, Timisoara, Romania., Sharapova S; Immunology Department, Belarussian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus., Shcherbina A; Department of Hematopoietic Stem Cell Transplantation, Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russia., Sitkauskiene B; Department of Immunology and Allergology, Lithuanian University of Health Sciences, Kaunas, Lithuania., Snimshchikova I; Medical Institute, Orel State University named after I.S.Turgenev, Orel, Russia., Spahiu-Konjusha S; Pediatric Clinic, Genetics Department, University Clinical Center of Kosovo Faculty of Medicine, University of Pristina 'Hasan Prishtina', Pristina, Kosovo., Szolnoky M; Primary Immunodeficiency Clinic, Szent János Hospital, Budapest, Hungary., Szűcs G; Department of Rheumatology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary., Toplak N; Children's Hospital, University Medical Center Ljubljana, Ljubljana, Slovenia., Tóth B; Institute of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary., Tsyvkina G; Department of Territorial Clinical Center of Specialized Types of Medical Care, State Autonomous Health Care Institution, Vladivostok, Russia., Tuzankina I; Institute of Immunology and Physiology of the Ural Branch of the Russian Academy of Sciences, Yekaterinburg, Russia., Vlasova E; Institute of Immunology and Physiology of the Ural Branch of the Russian Academy of Sciences, Yekaterinburg, Russia., Volokha A; Pediatric Infectious Disease and Pediatric Immunology Department, Shupyk National Healthcare University of Ukraine, Kyiv, Ukraine.
Jazyk:	angličtina
Zdroj:	Frontiers in immunology [Front Immunol] 2022 Dec 16; Vol. 13, pp. 1032358. Date of Electronic Publication: 2022 Dec 16 (Print Publication: 2022).
DOI:	10.3389/fimmu.2022.1032358
Abstrakt:	Introduction: 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. Results: 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). Conclusions: 1) this is the first study describing major diagnostic and treatment parameters of IEI care in countries of the JP; 2) the data suggest that the JP had tremendous impact on the development of IEI care in ECE; 3) our data help to define major future targets of JP activity in various countries; 4) we suggest that the number of IEI centers and IEI experts closely correlate to the most important treatment parameters; 5) we propose that specialist education among medical professionals plays pivotal role in increasing levels of diagnostics and adequate care of this vulnerable and still highly neglected patient population; 6) this study also provides the basis for further analysis of more specific aspects of IEI care including genetic diagnostics, disease specific prevalence, newborn screening and professional collaboration in JP countries. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2022 Abolhassani, Avcin, Bahceciler, Balashov, Bata, Bataneant, Belevtsev, Bernatowska, Bidló, Blazsó, Boisson, Bolkov, Bondarenko, Boyarchuk, Bundschu, Casanova, Chernishova, Ciznar, Csürke, Erdős, Farkas, Fomina, Galal, Goda, Guner, Hauser, Ilyina, Iremadze, Iritsyan, Ismaili-Jaha, Jesenak, Kelecic, Keles, Kindle, Kondratenko, Kostyuchenko, Kovzel, Kriván, Kuli-Lito, Kumánovics, Kurjane, Latysheva, Latysheva, Lázár, Markelj, Markovic, Maródi, Mammadova, Medvecz, Miltner, Mironska, Modell, Modell, Mosdósi, Mukhina, Murdjeva, Műzes, Nabieva, Nasrullayeva, Naumova, Nagy, Onozó, Orozbekova, Pac, Pagava, Pampura, Pasic, Petrosyan, Petrovic, Pocek, Prodeus, Reisli, Ress, Rezaei, Rodina, Rumyantsev, Sciuca, Sediva, Serban, Sharapova, Shcherbina, Sitkauskiene, Snimshchikova, Spahiu-Konjusha, Szolnoky, Szűcs, Toplak, Tóth, Tsyvkina, Tuzankina, Vlasova and Volokha.)
Databáze:	MEDLINE
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