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Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021
H. Abolhassani, T. Avcin, N. Bahceciler, D. Balashov, Z. Bata, M. Bataneant, M. Belevtsev, E. Bernatowska, J. Bidló, P. Blazsó, B. Boisson, M. Bolkov, A. Bondarenko, O. Boyarchuk, A. Bundschu, JL. Casanova, L. Chernishova, P. Ciznar, I. Csürke,...
Language English Country Switzerland
Document type Journal Article, Research Support, Non-U.S. Gov't
Grant support
Howard Hughes Medical Institute - United States
NLK
Directory of Open Access Journals
from 2010
Free Medical Journals
from 2010
PubMed Central
from 2010
Europe PubMed Central
from 2010
Open Access Digital Library
from 2010-01-01
Open Access Digital Library
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ROAD: Directory of Open Access Scholarly Resources
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- MeSH
- Immunoglobulin G * MeSH
- Administration, Intravenous MeSH
- Humans MeSH
- Infant, Newborn MeSH
- Educational Status MeSH
- Check Tag
- Humans MeSH
- Infant, Newborn MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't MeSH
- Geographicals
- Egypt MeSH
- Europe MeSH
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.
Children's Hospital University Medical Center Ljubljana Ljubljana Slovenia
Department of Biology and Microbiology Rīga Stradiņš University Riga Latvia
Department of Child and Adolescent Medicine Tbilisi State Medical University Tbilisi Georgia
Department of Clinical Immunology Sechenov 1st Moscow State Medical University Moscow Russia
Department of Dermatology and Allergology University of Szeged Szeged Hungary
Department of Eastern Europe Octapharma Nordic Stockholm Sweden
Department of Epidemiology and Immunology Kyrgyz Russian Slavic University Bishkek Kyrgyzstan
Department of Hematology and Transfusion Medicine National Institute of Health Yerevan Armenia
Department of Immunology and Allergology Lithuanian University of Health Sciences Kaunas Lithuania
Department of Immunology Clinical Emergency Paediatric Hospital Louis Turcanu Timisoara Romania
Department of Immunology The Children's Memorial Health Institute Warsaw Poland
Department of Internal Medicine and Hematology Semmelweis University Budapest Hungary
Department of Meteorology University of Debrecen Debrecen Hungary
Department of Pediatric Immunology Mother and Child Health Institute Belgrade Serbia
Department of Pediatric Immunology Necmettin Erbakan University Konya Turkey
Department of Pediatrics Clinical Center University of Pécs Pécs Hungary
Department of Pediatrics Necker Hospital for Sick Children Paris France
Department of Pediatrics Speransky Children's Municipal Clinical Hospital 9 Moscow Russia
Department of Pediatrics University Hospital Centre Mother Theresa Tirana Albania
Department of Pediatrics University of Bratislava Bratislava Slovakia
Department of Pediatrics University of Szeged Szeged Hungary
Department of Pulmonology Iashvili Children's Central Hospital Tbilisi Georgia
Department of Rheumatology and Immunology Faculty of Medicine University of Pécs Pécs Hungary
Department of Rheumatology Faculty of Medicine University of Debrecen Debrecen Hungary
Division of Pediatric Allergy and Immunology Near East University Nicosia Cyprus
Howard Hughes Medical Institute New York NY United States
Institute of Laboratory Medicine Faculty of Medicine University of Debrecen Debrecen Hungary
Medical Institute Orel State University named after 1 S Turgenev Orel Russia
National Health Insurance Fund Administration Budapest Hungary
Paris Cité University Imagine Institute Paris France
Pediatrics Department Faculty of Medicine Cairo University Giza Egypt
Primary Immunodeficiency Clinic Szent János Hospital Budapest Hungary
Research Immunology Laboratory Azerbaijan Medical University Baku Azerbaijan
st Pediatric Department Azerbaijan Medical University Baku Azerbaijan
References provided by Crossref.org
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- $a Abolhassani, Hassan $u Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
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- $a Care of patients with inborn errors of immunity in thirty J Project countries between 2004 and 2021 / $c H. Abolhassani, T. Avcin, N. Bahceciler, D. Balashov, Z. Bata, M. Bataneant, M. Belevtsev, E. Bernatowska, J. Bidló, P. Blazsó, B. Boisson, M. Bolkov, A. Bondarenko, O. Boyarchuk, A. Bundschu, JL. Casanova, L. Chernishova, P. Ciznar, I. Csürke, M. Erdős, H. Farkas, DS. Fomina, N. Galal, V. Goda, SN. Guner, P. Hauser, NI. Ilyina, T. Iremadze, S. Iritsyan, V. Ismaili-Jaha, M. Jesenak, J. Kelecic, S. Keles, G. Kindle, IV. Kondratenko, L. Kostyuchenko, E. Kovzel, G. Kriván, G. Kuli-Lito, G. Kumánovics, N. Kurjane, EA. Latysheva, TV. Latysheva, I. Lázár, G. Markelj, M. Markovic, L. Maródi, V. Mammadova, M. Medvecz, N. Miltner, K. Mironska, F. Modell, V. Modell, B. Mosdósi, AA. Mukhina, M. Murdjeva, G. Műzes, U. Nabieva, G. Nasrullayeva, E. Naumova, K. Nagy, B. Onozó, B. Orozbekova, M. Pac, K. Pagava, AN. Pampura, S. Pasic, M. Petrosyan, G. Petrovic, L. Pocek, AP. Prodeus, I. Reisli, K. Ress, N. Rezaei, YA. Rodina, AG. Rumyantsev, S. Sciuca, A. Sediva, M. Serban, S. Sharapova, A. Shcherbina, B. Sitkauskiene, I. Snimshchikova, S. Spahiu-Konjusha, M. Szolnoky, G. Szűcs, N. Toplak, B. Tóth, G. Tsyvkina, I. Tuzankina, E. Vlasova, A. Volokha
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- $a 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.
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