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The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation

2023Journal article Open access
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dc.contributor.authorStaus, P
dc.contributor.authorRusch, S
dc.contributor.authorEl-Helou, S
dc.contributor.authorMüller, G
dc.contributor.authorKrausz, M
dc.contributor.authorGeisen, U
dc.contributor.authorCaballero-Oteyza, A
dc.contributor.authorKrüger, R
dc.contributor.authorBakhtiar, S
dc.contributor.authorLee-Kirsch, MA
dc.contributor.authorFasshauer, M
dc.contributor.authorBaumann, U
dc.contributor.authorHoyer, BF
dc.contributor.authorFarela Neves, J
dc.contributor.authorBorte, M
dc.contributor.authorCarrabba, M
dc.contributor.authorHauck, F
dc.contributor.authorEhl, S
dc.contributor.authorBader, P
dc.contributor.authorvon Bernuth, H
dc.contributor.authorAtschekzei, F
dc.contributor.authorSeppänen, MR
dc.contributor.authorWarnatz, K
dc.contributor.authorNieters, A
dc.contributor.authorKindle, G
dc.contributor.authorGrimbacher, B
dc.date.accessioned2024-03-20T13:30:30Z
dc.date.available2024-03-20T13:30:30Z
dc.date.issued2023
dc.description.abstractPatient 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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Clin Immunol . 2023 Aug;43(6):1289-1301pt_PT
dc.identifier.doi10.1007/s10875-023-01472-0pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/4860
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringerlinkpt_PT
dc.subjectAutoimmunity* / geneticspt_PT
dc.subjectEuropept_PT
dc.subjectHumanspt_PT
dc.subjectMutation / geneticspt_PT
dc.subjectProspective Studiespt_PT
dc.subjectRegistriespt_PT
dc.subjectHDE PEDpt_PT
dc.titleThe GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammationpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage1301pt_PT
oaire.citation.issue6pt_PT
oaire.citation.startPage1289pt_PT
oaire.citation.titleJournal of Clinical Immunologypt_PT
oaire.citation.volume43pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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