{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T05:05:14Z","timestamp":1784696714364,"version":"3.55.0"},"reference-count":19,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T00:00:00Z","timestamp":1784678400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"\n Background<\/jats:title>\n Inborn errors of immunity are rare, genetically heterogeneous disorders requiring coordinated clinical, laboratory, and genetic evaluation over time. Data are often fragmented across records, laboratory systems, and genomic reports, limiting longitudinal analysis and coordinated care, particularly in the Middle East and North Africa, where structured rare disease data infrastructures remain limited.<\/jats:p>\n <\/jats:sec>\n \n Objective<\/jats:title>\n To develop a Research Electronic Data Capture\u2013based data management framework for inborn errors of immunity and demonstrate its use in a prospective multi-site setting.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n A Research Electronic Data Capture\u2013based framework was developed at the College of Medicine and Health Sciences, United Arab Emirates University. Modular instruments captured consent, demographics, biospecimen processing, laboratory workflows, and genetic findings within a longitudinal structure. Data dictionaries, validation rules, and conditional logic ensured data quality. The framework was deployed across participating sites for prospective data collection.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n The framework enabled integrated longitudinal documentation of enrollment, biospecimens, and genetic testing. It was implemented across two clinical sites and used to enroll patients with suspected or confirmed inborn errors of immunity. The platform supported standardized cross-site data capture and monitoring of genetic findings, including automated flagging of variants of uncertain significance.<\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n This study demonstrates the development and early multi-site implementation of a Research Electronic Data Capture\u2013based framework for inborn errors of immunity. By enabling standardized integration of clinical, laboratory, and genetic data, the platform supports data quality, cross-site collaboration, and tracking of evolving diagnoses. It provides a scalable foundation for rare disease research and may support improved clinical decision-making.<\/jats:p>\n <\/jats:sec>","DOI":"10.3389\/fimmu.2026.1838940","type":"journal-article","created":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T04:40:42Z","timestamp":1784695242000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Designing an integrated data model for prospective genotype-phenotype in inborn errors of immunity research"],"prefix":"10.3389","volume":"17","author":[{"given":"Maram","family":"Ahmed","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, College of Medicine and Health Sciences, United Arab Emirates University","place":["Al Ain, United Arab Emirates"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed Aziz","family":"Bousfiha","sequence":"additional","affiliation":[{"name":"Pediatric Infectious and Immunological Diseases, Ibn Rochd University Hospital","place":["Casablanca, Morocco"]},{"name":"Laboratory of Clinical Immunology, Infection and Autoimmunity (LICIA), Faculty of Medicine and Pharmacy, Hassan II University","place":["Casablanca, Morocco"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Farida","family":"Almarzooqi","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, College of Medicine and Health Sciences, United Arab Emirates University","place":["Al Ain, United Arab Emirates"]},{"name":"Consultant Allergy and Clinical Immunology, Department of Internal Medicine, Tawam Hospital and Sheikh Tahnoun Bin Mohammed Medical City (STMC)","place":["Al Ain, United Arab Emirates"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,7,22]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.70962\/jhi.20250003","article-title":"Human inborn errors of immunity: 2024 update on the classification 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report on 30,628 patients","volume":"1","author":"Kindle","year":"2025","journal-title":"J Hum Immun"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2023.11.022","article-title":"GenIA, the Genetic Immunology Advisor database for inborn errors of immunity","volume":"153","author":"Caballero-Oteyza","year":"2024","journal-title":"J Allergy Clin Immunol"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2026.110686","article-title":"The MENAT Region Inborn Errors of Immunity Research Consortium Registry (MENAT-IEI-RCR): Establishing a regional framework for collaborative research","volume":"284","author":"Barbouche","year":"2026","journal-title":"Clin Immunol"},{"key":"B12","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2023.1177204","article-title":"Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database","volume":"14","author":"Bizzari","year":"2023","journal-title":"Front 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(4) of 2016 concerning medical liability\n \n \n \n 2016"},{"key":"B16","unstructured":"Federal law by decree no. (49), regulating the use of the human genome\n \n \n \n 2023"},{"key":"B17","unstructured":"Federal law no. (2) of 2019, concerning the use of information and communications technology in health fields\n \n \n \n 2019"},{"key":"B18","unstructured":"ClinCapture electronic data capture platform: clinCapture inc\n \n \n \n 2014"},{"key":"B19","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1038\/s41525-025-00534-z","article-title":"RareLink: scalable REDCap-based framework for rare disease interoperability linking international registries to FHIR and Phenopackets","volume":"10","author":"Graefe","year":"2025","journal-title":"NPJ Genomic Med"}],"container-title":["Frontiers in Immunology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fimmu.2026.1838940\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T04:40:44Z","timestamp":1784695244000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fimmu.2026.1838940\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,22]]},"references-count":19,"alternative-id":["10.3389\/fimmu.2026.1838940"],"URL":"https:\/\/doi.org\/10.3389\/fimmu.2026.1838940","relation":{},"ISSN":["1664-3224"],"issn-type":[{"value":"1664-3224","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,22]]},"article-number":"1838940"}}