Article

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

Hassan AbolhassaniResearch Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, IranTadej AvčinChildren's Hospital, University Medical Center Ljubljana, Ljubljana, SloveniaNerin N. BahçecilerDivision of Pediatric Allergy and Immunology, Near East University, Nicosia, CyprusDmitry BalashovDepartment of Hematopoietic Stem Cell Transplantation, Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, RussiaZsuzsanna Bata‐CsörgõDepartment of Dermatology and Allergology, University of Szeged, Szeged, HungaryMihaela BătăneanţMikhail BelevtsevImmunology Department, Belarussian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, BelarusEwa BernatowskaDepartment of Immunology, The Children's Memorial Health Institute, Warsaw, PolandJudit BidlóPéter BlazsóDepartment of Pediatrics, University of Szeged, Szeged, HungaryBertrand BoissonDepartment of Pediatrics, Necker Hospital for Sick Children, Paris, FranceMikhail A. BolkovInstitute of Immunology and Physiology of the Ural Branch of the Russian Academy of Sciences, Yekaterinburg, RussiaАнастасія БондаренкоPediatric Infectious Disease and Pediatric Immunology Department, Shupyk National Healthcare University of Ukraine, Kyiv, UkraineOksana BoyarchukDepartment of Children's Diseases and Pediatric Surgery, I.Horbachevsky Ternopil National Medical University, Ternopil, UkraineAnna BundschuJean‐Laurent CasanovaDepartment of Pediatrics, Necker Hospital for Sick Children, Paris, FranceLiudmyla ChernishovaPediatric Infectious Disease and Pediatric Immunology Department, Shupyk National Healthcare University of Ukraine, Kyiv, UkrainePeter ČižnárIldikó CsürkeDepartment of Pediatrics, Jósa András County Hospital and University Teaching Hospital, Nyíregyháza, HungaryMelinda ErdösPrimary Immunodeficiency Clinical Unit and Laboratory, Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, Budapest, HungaryHenriette FarkasCenter for Hereditary Angioedema, Department of Internal Medicine and Hematology, Semmelweis University, Budapest, HungaryDaria FominaDepartment of Clinical Immunology, Sechenov First Moscow State Medical University, Moscow, RussiaNermeen GalalPediatrics Department, Faculty of Medicine, Cairo University, Giza, EgyptVera GodaŞükrü Nail GünerDepartment of Pediatric Immunology, Necmettin Erbakan University, Konya, TurkeyPéter HauserVelkey László Child's Health Center, Borsod-Abaúj-Zemplén County Hospital and University Teaching Hospital, Miskolc, HungaryNatalya I. IlyinaDepartment of Pulmonology, National Research Center Institute of Immunology, Federal Biomedical Agency of Russia, Moscow, RussiaTeona IremadzeDepartment of Pulmonology, Iashvili Children's Central Hospital, Tbilisi, GeorgiaSevan IritsyanDepartment of Hematology and Transfusion Medicine, National Institute of Health, Yerevan, ArmeniaVlora Ismaili–JahaPediatric Clinic, Department of Gastroenterology, University Clinical Center of Kosovo Faculty of Medicine, University of Prishtina "Hasan Prishtina", Pristina, KosovoMiloš JeseňákDepartment of Pediatrics, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, University Hospital in Martin, Martin, SlovakiaJadranka KelečićDepartment of Pediatrics, Division of Clinical Immunology, Allergology, Respiratory Diseases and Rheumatology, University Hospital Center Zagreb, Zagreb, CroatiaSevgi KeleşDepartment of Pediatric Immunology, Necmettin Erbakan University, Konya, TurkeyGerhard KindleInstitute for Immunodeficiency, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, GermanyIrina KondratenkoRussian Children's Clinical Hospital of the N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia, Moscow, RussiaLarysa KostyuchenkoDepartment of Pediatric Immunology and Reumatology, Western-Ukrainian Specialized Children's Medical Centre, Lviv, UkraineElena KovzelProgram of Clinical Immunology, Allergology and Pulmonology, University Medical Center, Nazarbaev University, Nur-Sultan, KazakhstanGergely KrivánGeorgina Kuli-LitoDepartment of Pediatrics, University Hospital Centre Mother Theresa, Tirana, AlbaniaGabór KumánovicsDepartment of Rheumatology and Immunology, Faculty of Medicine, University of Pécs, Pécs, HungaryNataļja KurjāneDepartment of Biology and Microbiology, Rīga Stradiņš University, Riga, LatviaElena A. LatyshevaDepartment of Pulmonology, National Research Center Institute of Immunology, Federal Biomedical Agency of Russia, Moscow, RussiaТ В ЛатышеваDepartment of Pulmonology, National Research Center Institute of Immunology, Federal Biomedical Agency of Russia, Moscow, RussiaIstván LázárDepartment of Meteorology, University of Debrecen, Debrecen, HungaryGašper MarkeljChildren's Hospital, University Medical Center Ljubljana, Ljubljana, SloveniaM. MarkovićDepartment of Eastern Europe, Octapharma Nordic, Stockholm, SwedenLászló MaródiDepartment of Pediatrics, Jósa András County Hospital and University Teaching Hospital, Nyíregyháza, HungaryVafa MammadovaResearch-Immunology Laboratory, Azerbaijan Medical University, Baku, AzerbaijanMárta MedveczDepartment of Pediatrics, Jósa András County Hospital and University Teaching Hospital, Nyíregyháza, HungaryNoémi MiltnerDepartment of Biochemistry and Molecular Biology, Faculty of Medicine, University of Debrecen, Debrecen, HungaryKristina MironskaUniversity Clinic for Children's Diseases, Department of Immunology, Faculty of Medicine, University "St.Cyril and Methodius", Skopje, North MacedoniaFred ModellThe Jeffrey Modell Foundation, New York, NY, United StatesVicki ModellThe Jeffrey Modell Foundation, New York, NY, United StatesBernadett MosdósiDepartment of Pediatrics, Clinical Center, University of Pécs, Pécs, HungaryAnna MukhinаDepartment of Hematopoietic Stem Cell Transplantation, Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, RussiaMarianna MurdjevaDepartment of Microbiology and Immunology, Faculty of Pharmacy, Research Institute, Medical University-Plovdiv, Plovdiv, BulgariaGyörgyi MűzesDepartment of Internal Medicine and Hematology, Semmelweis University, Budapest, HungaryUmida NabievaInstitute of Immunology and Human Genomics, Academy of Sciences of the Republic of Uzbekistan, Tashkent, UzbekistanGulnara Nasrullayeva1-st Pediatric Department, Azerbaijan Medical University, Baku, AzerbaijanElissaveta NaumovaDepartment of Clinical Immunology, Faculty of Medicine, Alexandrovska Hospital, Medical University, Sofia, BulgariaKálmán NagyVelkey László Child's Health Center, Borsod-Abaúj-Zemplén County Hospital and University Teaching Hospital, Miskolc, HungaryBeáta ÓnozóVelkey László Child's Health Center, Borsod-Abaúj-Zemplén County Hospital and University Teaching Hospital, Miskolc, HungaryBubusaira OrozbekovaDepartment of Epidemiology and Immunology, Kyrgyz-Russian Slavic University, Bishkek, KyrgyzstanMałgorzata PacDepartment of Immunology, The Children's Memorial Health Institute, Warsaw, PolandKaraman PagavaDepartment of Child and Adolescent Medicine, Tbilisi State Medical University, Tbilisi, GeorgiaА Н ПампураDepartment 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, RussiaSrdjan PašićDepartment of Pediatric Immunology, Mother and Child Health Institute, Belgrade, SerbiaMery PetrosyanDepartment of Hematology and Transfusion Medicine, Pediatric Cancer and Blood Disorders Center, Yerevan, ArmeniaGordana PetrovićDepartment of Pediatric Immunology, Mother and Child Health Institute, Belgrade, SerbiaLidija PocekDepartment of Allergology, Institute for Children Diseases, Clinical Center of Montenegro, Podgorica, MontenegroAndrei P. ProdeusDepartment of Pediatrics, Speransky Children's Municipal Clinical Hospital #9, Moscow, Russiaİsmail ReisliDepartment of Pediatric Immunology, Necmettin Erbakan University, Konya, TurkeyKrista RessDepartment of Pediatrics, Center of Allergology and Immunology, East-Tallinn Central Hospital, Tallinn, EstoniaNima RezaeiResearch Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, IranYulia RodinaDepartment of Hematopoietic Stem Cell Transplantation, Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, RussiaA. G. RumyantsevDepartment of Hematopoietic Stem Cell Transplantation, Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, RussiaSvetlana SciucaDepartment of Pulmonology, Nicolae Testemitanu State University of Medicine and Pharmacy, Chisinau, MoldovaAnna ŠediváDepartment of Pulmonology, Motol University Hospital, 2nd Faculty of Medicine, Charles University, Prague, CzechiaM. ŞerbanSvetlana SharapovaImmunology Department, Belarussian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, BelarusAnna ShcherbinaDepartment of Hematopoietic Stem Cell Transplantation, Dmitry Rogachev National Medical Center of Pediatric Hematology, Oncology and Immunology, Moscow, RussiaBrigita ŠitkauskienėDepartment of Immunology and Allergology, Lithuanian University of Health Sciences, Kaunas, LithuaniaIrina SnimshchikovaMedical Institute, Orel State University named after I.S.Turgenev, Orel, RussiaShqipe Spahiu-KonjushaPediatric Clinic, Genetics Department, University Clinical Center of Kosovo Faculty of Medicine, University of Pristina "Hasan Prishtina", Pristina, KosovoMiklós SzolnokyPrimary Immunodeficiency Clinic, Szent János Hospital, Budapest, HungaryGabriella SzűcsDepartment of Rheumatology, Faculty of Medicine, University of Debrecen, Debrecen, HungaryNataša ToplakChildren's Hospital, University Medical Center Ljubljana, Ljubljana, SloveniaBeáta TóthInstitute of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, HungaryGalina TsyvkinaIrina A. TuzankinaInstitute of Immunology and Physiology of the Ural Branch of the Russian Academy of Sciences, Yekaterinburg, RussiaЕ. В. ВласоваInstitute of Immunology and Physiology of the Ural Branch of the Russian Academy of Sciences, Yekaterinburg, RussiaАлла ВолохаPediatric Infectious Disease and Pediatric Immunology Department, Shupyk National Healthcare University of Ukraine, Kyiv, Ukraine

Frontiers in Immunologyjournal2022en

ABI

Abstract

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.

Topics

Immunodeficiency and Autoimmune Disorders Mycobacterium research and diagnosis Blood disorders and treatments

Identifiers

DOI: 10.3389/fimmu.2022.1032358

Citations and references

Cited by 038 references

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