The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation
| Autor(a) principal: | |
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| Data de Publicação: | 2023 |
| Outros Autores: | , , , , , , , , , , , , , , , , , , , , , , , , |
| Tipo de documento: | Artigo |
| Idioma: | eng |
| Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
| Texto Completo: | http://hdl.handle.net/10362/152437 |
Resumo: | Funding Information: The documentation specialist S.E-H. was funded by the Federal Ministry of Education and Research (BMBF, Support Code: 01GM1517C), by the European Society for Immunodeficiencies (ESID), 2018, by the Care-for-Rare Foundation, by PROimmun e.V., and by a restricted grant from LFB, CSL Behring, and Grifols. For GAIN, she was funded by the BMBF (GAIN support code: 01GM1910A). For RESIST, she was funded by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) under Germany’s Excellence Strategy - EXC 2155 - project number 390874280. M.K. is supported by the Deutsche Forschungsgemeinschaft (DFG) SFB1160_2 as clinician scientist associated to IMM-PACT-Program, Faculty of Medicine, University of Freiburg, Freiburg, Germany. The views expressed in the submitted article are those of the authors’ and not an official position of their institutions or funders. Publisher Copyright: © 2023, The Author(s). |
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The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and AutoinflammationAutoimmunityAutoinflammationEpidemiologyImmune-dysregulationInborn error of immunityPrimary immunodeficiencyRare diseasesImmunology and AllergyImmunologyFunding Information: The documentation specialist S.E-H. was funded by the Federal Ministry of Education and Research (BMBF, Support Code: 01GM1517C), by the European Society for Immunodeficiencies (ESID), 2018, by the Care-for-Rare Foundation, by PROimmun e.V., and by a restricted grant from LFB, CSL Behring, and Grifols. For GAIN, she was funded by the BMBF (GAIN support code: 01GM1910A). For RESIST, she was funded by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) under Germany’s Excellence Strategy - EXC 2155 - project number 390874280. M.K. is supported by the Deutsche Forschungsgemeinschaft (DFG) SFB1160_2 as clinician scientist associated to IMM-PACT-Program, Faculty of Medicine, University of Freiburg, Freiburg, Germany. The views expressed in the submitted article are those of the authors’ and not an official position of their institutions or funders. Publisher Copyright: © 2023, The Author(s).Patient registries are a very important and essential tool for investigating rare diseases, as most physicians only see a limited number of cases during their career. Diseases of multi-organ autoimmunity and autoinflammation are especially challenging, as they are characterized by diverse clinical phenotypes and highly variable expressivity. The GAIN consortium (German multi-organ Auto Immunity Network) developed a dataset addressing these challenges. ICD-11, HPO, and ATC codes were incorporated to document various clinical manifestations and medications with a defined terminology. The GAIN dataset comprises detailed information on genetics, phenotypes, medication, and laboratory values. Between November 2019 and July 2022, twelve centers from Europe have registered 419 patients with multi-organ autoimmunity or autoinflammation. The median age at onset of symptoms was 13 years (IQR 3–28) and the median delay from onset to diagnosis was 5 years (IQR 1–14). Of 354 (84.5%) patients who were genetically tested, 248 (59.2%) had a defined monogenetic cause. For 87 (20.8%) patients, no mutation was found and for 19 (4.5%), the result was pending. The most common gene affected was NFkB1 (48, 11.5%), and the second common was CTLA4 (40, 9.5%), both genetic patient groups being fostered by specific research projects within GAIN. The GAIN registry may serve as a valuable resource for research in the inborn error of immunity community by providing a platform for etiological and diagnostic research projects, as well as observational trials on treatment options.Comprehensive Health Research Centre (CHRC) - pólo NMSNOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)RUNStaus, PaulinaRusch, StephanEl-Helou, SabineMüller, GabrieleKrausz, MátéGeisen, UlfCaballero-Oteyza, AndrésKrüger, RenateBakhtiar, ShahrzadLee-Kirsch, Min AeFasshauer, MariaBaumann, UlrichHoyer, Bimba FranziskaFarela Neves, JoãoBorte, MichaelCarrabba, MariaHauck, FabianEhl, StephanBader, Petervon Bernuth, HorstAtschekzei, FaranazSeppänen, Mikko R.J.Warnatz, KlausNieters, AlexandraKindle, GerhardGrimbacher, Bodo2023-05-04T22:13:13Z20232023-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10362/152437eng0271-9142PURE: 59749800https://doi.org/10.1007/s10875-023-01472-0info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2024-03-11T05:34:46Zoai:run.unl.pt:10362/152437Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T03:54:54.787933Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
| dc.title.none.fl_str_mv |
The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation |
| title |
The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation |
| spellingShingle |
The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation Staus, Paulina Autoimmunity Autoinflammation Epidemiology Immune-dysregulation Inborn error of immunity Primary immunodeficiency Rare diseases Immunology and Allergy Immunology |
| title_short |
The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation |
| title_full |
The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation |
| title_fullStr |
The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation |
| title_full_unstemmed |
The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation |
| title_sort |
The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation |
| author |
Staus, Paulina |
| author_facet |
Staus, Paulina Rusch, Stephan El-Helou, Sabine Müller, Gabriele Krausz, Máté Geisen, Ulf Caballero-Oteyza, Andrés Krüger, Renate Bakhtiar, Shahrzad Lee-Kirsch, Min Ae Fasshauer, Maria Baumann, Ulrich Hoyer, Bimba Franziska Farela Neves, João Borte, Michael Carrabba, Maria Hauck, Fabian Ehl, Stephan Bader, Peter von Bernuth, Horst Atschekzei, Faranaz Seppänen, Mikko R.J. Warnatz, Klaus Nieters, Alexandra Kindle, Gerhard Grimbacher, Bodo |
| author_role |
author |
| author2 |
Rusch, Stephan El-Helou, Sabine Müller, Gabriele Krausz, Máté Geisen, Ulf Caballero-Oteyza, Andrés Krüger, Renate Bakhtiar, Shahrzad Lee-Kirsch, Min Ae Fasshauer, Maria Baumann, Ulrich Hoyer, Bimba Franziska Farela Neves, João Borte, Michael Carrabba, Maria Hauck, Fabian Ehl, Stephan Bader, Peter von Bernuth, Horst Atschekzei, Faranaz Seppänen, Mikko R.J. Warnatz, Klaus Nieters, Alexandra Kindle, Gerhard Grimbacher, Bodo |
| author2_role |
author author author author author author author author author author author author author author author author author author author author author author author author author |
| dc.contributor.none.fl_str_mv |
Comprehensive Health Research Centre (CHRC) - pólo NMS NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM) RUN |
| dc.contributor.author.fl_str_mv |
Staus, Paulina Rusch, Stephan El-Helou, Sabine Müller, Gabriele Krausz, Máté Geisen, Ulf Caballero-Oteyza, Andrés Krüger, Renate Bakhtiar, Shahrzad Lee-Kirsch, Min Ae Fasshauer, Maria Baumann, Ulrich Hoyer, Bimba Franziska Farela Neves, João Borte, Michael Carrabba, Maria Hauck, Fabian Ehl, Stephan Bader, Peter von Bernuth, Horst Atschekzei, Faranaz Seppänen, Mikko R.J. Warnatz, Klaus Nieters, Alexandra Kindle, Gerhard Grimbacher, Bodo |
| dc.subject.por.fl_str_mv |
Autoimmunity Autoinflammation Epidemiology Immune-dysregulation Inborn error of immunity Primary immunodeficiency Rare diseases Immunology and Allergy Immunology |
| topic |
Autoimmunity Autoinflammation Epidemiology Immune-dysregulation Inborn error of immunity Primary immunodeficiency Rare diseases Immunology and Allergy Immunology |
| description |
Funding Information: The documentation specialist S.E-H. was funded by the Federal Ministry of Education and Research (BMBF, Support Code: 01GM1517C), by the European Society for Immunodeficiencies (ESID), 2018, by the Care-for-Rare Foundation, by PROimmun e.V., and by a restricted grant from LFB, CSL Behring, and Grifols. For GAIN, she was funded by the BMBF (GAIN support code: 01GM1910A). For RESIST, she was funded by the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) under Germany’s Excellence Strategy - EXC 2155 - project number 390874280. M.K. is supported by the Deutsche Forschungsgemeinschaft (DFG) SFB1160_2 as clinician scientist associated to IMM-PACT-Program, Faculty of Medicine, University of Freiburg, Freiburg, Germany. The views expressed in the submitted article are those of the authors’ and not an official position of their institutions or funders. Publisher Copyright: © 2023, The Author(s). |
| publishDate |
2023 |
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2023-05-04T22:13:13Z 2023 2023-01-01T00:00:00Z |
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info:eu-repo/semantics/publishedVersion |
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info:eu-repo/semantics/article |
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http://hdl.handle.net/10362/152437 |
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eng |
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0271-9142 PURE: 59749800 https://doi.org/10.1007/s10875-023-01472-0 |
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