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

Abolhassani H. Avcin T. Bahceciler N. Balashov D. Bata Z. Bataneant M. Belevtsev M. Bernatowska E. Bidló J. Blazsó P. Boisson B. Bolkov M. Bondarenko A. Boyarchuk O. Bundschu A. Casanova J.-L. Chernishova L. Ciznar P. Csürke I. Erdős M. Farkas H. Fomina D.S. Galal N. Goda V. Guner S.N. Hauser P. Ilyina N.I. Iremadze T. Iritsyan S. Ismaili-Jaha V. Jesenak M. Kelecic J. Keles S. Kindle G. Kondratenko I.V. Kostyuchenko L. Kovzel E. Kriván G. Kuli-Lito G. Kumánovics G. Kurjane N. Latysheva E.A. Latysheva T.V. Lázár I. Markelj G. Markovic M. Maródi L. Mammadova V. Medvecz M. Miltner N. Mironska K. Modell F. Modell V. Mosdósi B. Mukhina A.A. Murdjeva M. Műzes G. Nabieva U. Nasrullayeva G. Naumova E. Nagy K. Onozó B. Orozbekova B. Pac M. Pagava K. Pampura A.N. Pasic S. Petrosyan M. Petrovic G. Pocek L. Prodeus A.P. Reisli I. Ress K. Rezaei N. Rodina Y.A. Rumyantsev A.G. Sciuca S. Sediva A. Serban M. Sharapova S. Shcherbina A. Sitkauskiene B. Snimshchikova I. Spahiu-Konjusha S. Szolnoky M. Szűcs G. Toplak N. Tóth B. Tsyvkina G. Tuzankina I. Vlasova E. Volokha A.
16 December 2022 Frontiers Media SA

Frontiers in Immunology
2022 #13

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. Copyright

Eastern and Central Europe, Asia , ESID , immunodeficiencies , J Project , parameters

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Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
Children’s Hospital, University Medical Center Ljubljana, Ljubljana, Slovenia
Division of Pediatric Allergy and Immunology, Near East University, Nicosia, Cyprus
Department of Hematopoietic Stem Cell Transplantation, Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, Russian Federation
Department of Dermatology and Allergology, University of Szeged, Szeged, Hungary
Department of Immunology, Clinical Emergency Paediatric Hospital Louis Turcanu, Timisoara, Romania
Immunology Department, Belarussian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus
Department of Immunology, The Children’s Memorial Health Institute, Warsaw, Poland
National Health Insurance Fund Administration, Budapest, Hungary
Department of Pediatrics, University of Szeged, Szeged, Hungary
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
Institute of Immunology and Physiology of the Ural Branch of the Russian Academy of Sciences, Yekaterinburg, Russian Federation
Pediatric Infectious Disease and Pediatric Immunology Department, Shupyk National Healthcare University of Ukraine, Kyiv, Ukraine
Department of Children’s Diseases and Pediatric Surgery, I.Horbachevsky Ternopil National Medical University, Ternopil, Ukraine
Department of Pediatrics, University of Bratislava, Bratislava, Slovakia
Department of Pediatrics, Jósa András County Hospital and University Teaching Hospital, Nyíregyháza, Hungary
Primary Immunodeficiency Clinical Unit and Laboratory, Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, Budapest, Hungary
Center for Hereditary Angioedema, Department of Internal Medicine and Hematology, Semmelweis University, Budapest, Hungary
Department of Clinical Immunology, Sechenov First Moscow State Medical University, Moscow, Russian Federation
Pediatrics Department, Faculty of Medicine, Cairo University, Giza, Egypt
Department of Pediatric Hematology and Stem Cell Transplantation, Central Hospital of Southern Pest, Budapest, Hungary
Department of Pediatric Immunology, Necmettin Erbakan University, Konya, Turkey
Velkey László Child’s Health Center, Borsod-Abaúj-Zemplén County Hospital and University Teaching Hospital, Miskolc, Hungary
Department of Pulmonology, National Research Center Institute of Immunology, Federal Biomedical Agency of Russia, Moscow, Russian Federation
Department of Pulmonology, Iashvili Children’s Central Hospital, Tbilisi, Georgia
Department of Hematology and Transfusion Medicine, National Institute of Health, Yerevan, Armenia
Pediatric Clinic, Department of Gastroenterology, University Clinical Center of Kosovo Faculty of Medicine, University of Prishtina “Hasan Prishtina”, Pristina, Kosovo
Department of Pediatrics, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, University Hospital in Martin, Martin, Slovakia
Department of Pediatrics, Division of Clinical Immunology, Allergology, Respiratory Diseases and Rheumatology, University Hospital Center Zagreb, Zagreb, Croatia
Institute for Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
Russian Children’s Clinical Hospital of the N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow, Russian Federation
Department of Pediatric Immunology and Reumatology, Western-Ukrainian Specialized Children’s Medical Centre, Lviv, Ukraine
Program of Clinical Immunology, Allergology and Pulmonology, University Medical Center, Nazarbaev University, Nur-Sultan, Kazakhstan
Department of Pediatrics, University Hospital Centre Mother Theresa, Tirana, Albania
Department of Rheumatology and Immunology, Faculty of Medicine, University of Pécs, Pécs, Hungary
Department of Biology and Microbiology, Rīga Stradiņš University, Riga, Latvia
Department of Meteorology, University of Debrecen, Debrecen, Hungary
Department of Eastern Europe, Octapharma Nordic, Stockholm, Sweden
Research-Immunology Laboratory, Azerbaijan Medical University, Baku, Azerbaijan
Department of Biochemistry and Molecular Biology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary
University Clinic for Children’s Diseases, Department of Immunology, Faculty of Medicine, University “St.Cyril and Methodius”, Skopje, North Macedonia
The Jeffrey Modell Foundation, New York, NY, United States
Department of Pediatrics, Clinical Center, University of Pécs, Pécs, Hungary
Department of Microbiology and Immunology, Faculty of Pharmacy, Research Institute, Medical University-Plovdiv, Plovdiv, Bulgaria
Department of Internal Medicine and Hematology, Semmelweis University, Budapest, Hungary
Institute of Immunology and Human Genomics, Academy of Sciences of the Republic of Uzbekistan, Tashkent, Uzbekistan
st Pediatric Department, Azerbaijan Medical University, Baku, Azerbaijan
Department of Clinical Immunology, Faculty of Medicine, Alexandrovska Hospital, Medical University, Sofia, Bulgaria
Department of Epidemiology and Immunology, Kyrgyz-Russian Slavic University, Bishkek, Kyrgyzstan
Department of Child and Adolescent Medicine, Tbilisi State Medical University, Tbilisi, Georgia
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, Russian Federation
Department of Pediatric Immunology, Mother and Child Health Institute, Belgrade, Serbia
Department of Allergology, Institute for Children Diseases, Clinical Center of Montenegro, Podgorica, Montenegro
Department of Pediatrics, Speransky Children’s Municipal Clinical Hospital #9, Moscow, Russian Federation
Department of Pediatrics, Center of Allergology and Immunology, East-Tallinn Central Hospital, Tallinn, Estonia
Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
Department of Pulmonology, Nicolae Testemitanu State University of Medicine and Pharmacy, Chisinau, Moldova
Department of Pulmonology, Motol University Hospital, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic
Academy of Medical Sciences-Research Unit, Clinical Emergency Paediatric Hospital Louis Turcanu, Timisoara, Romania
Department of Immunology and Allergology, Lithuanian University of Health Sciences, Kaunas, Lithuania
Medical Institute, Orel State University named after I.S.Turgenev, Orel, Russian Federation
Pediatric Clinic, Genetics Department, University Clinical Center of Kosovo Faculty of Medicine, University of Pristina ”Hasan Prishtina”, Pristina, Kosovo
Primary Immunodeficiency Clinic, Szent János Hospital, Budapest, Hungary
Department of Rheumatology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary
Institute of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary
Department of Territorial Clinical Center of Specialized Types of Medical Care, State Autonomous Health Care Institution, Vladivostok, Russian Federation

Research Center for Immunodeficiencies
Children’s Hospital
Division of Pediatric Allergy and Immunology
Department of Hematopoietic Stem Cell Transplantation
Department of Dermatology and Allergology
Department of Immunology
Immunology Department
Department of Immunology
National Health Insurance Fund Administration
Department of Pediatrics
St. Giles Laboratory of Human Genetics of Infectious Diseases
Laboratory of Human Genetics of Infectious Diseases
Paris Cité University
Department of Pediatrics
Howard Hughes Medical Institute
Institute of Immunology and Physiology of the Ural Branch of the Russian Academy of Sciences
Pediatric Infectious Disease and Pediatric Immunology Department
Department of Children’s Diseases and Pediatric Surgery
Department of Pediatrics
Department of Pediatrics
Primary Immunodeficiency Clinical Unit and Laboratory
Center for Hereditary Angioedema
Department of Clinical Immunology
Pediatrics Department
Department of Pediatric Hematology and Stem Cell Transplantation
Department of Pediatric Immunology
Velkey László Child’s Health Center
Department of Pulmonology
Department of Pulmonology
Department of Hematology and Transfusion Medicine
Pediatric Clinic
Department of Pediatrics
Department of Pediatrics
Institute for Immunodeficiency
Russian Children’s Clinical Hospital of the N.I. Pirogov Russian National Research Medical University
Department of Pediatric Immunology and Reumatology
Program of Clinical Immunology
Department of Pediatrics
Department of Rheumatology and Immunology
Department of Biology and Microbiology
Department of Meteorology
Department of Eastern Europe
Research-Immunology Laboratory
Department of Biochemistry and Molecular Biology
University Clinic for Children’s Diseases
The Jeffrey Modell Foundation
Department of Pediatrics
Department of Microbiology and Immunology
Department of Internal Medicine and Hematology
Institute of Immunology and Human Genomics
st Pediatric Department
Department of Clinical Immunology
Department of Epidemiology and Immunology
Department of Child and Adolescent Medicine
Department of Allergology and Clinical Immunology
Department of Pediatric Immunology
Department of Allergology
Department of Pediatrics
Department of Pediatrics
Research Center for Immunodeficiencies
Department of Pulmonology
Department of Pulmonology
Academy of Medical Sciences-Research Unit
Department of Immunology and Allergology
Medical Institute
Pediatric Clinic
Primary Immunodeficiency Clinic
Department of Rheumatology
Institute of Laboratory Medicine
Department of Territorial Clinical Center of Specialized Types of Medical Care

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