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Murray, C; Santangeli, E; Mockler, D; Townsend, K; Seidel, MG; Burns, SO, , ESID, Clinical, Working, Party.
A scoping review of clinical management guidelines in inborn errors of immunity.
J Allergy Clin Immunol. 2025; Doi: 10.1016/j.jaci.2025.08.015
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Co-authors Med Uni Graz: Seidel Markus
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Abstract:: BACKGROUND: A scoping review was conducted for the European Society for Immunodeficiencies Clinical Working Party to evaluate clinical management guidelines for inborn errors of immunity (IEI). OBJECTIVE: We sought to identify gaps to inform future IEI guideline development, thereby supporting improved clinical practice and patient outcomes. METHODS: A search strategy was developed in collaboration with the European Society for Immunodeficiencies Clinical Working Party and an information specialist. The search was performed using Embase, Medline, and Google Scholar. Search terms were based on the 2022 International Union of Immunological Societies IEI classification criteria, incorporating Emtree and MeSH terms with Boolean and proximity operators. Titles and abstracts were screened by 2 independent reviewers using predefined eligibility criteria. RESULTS: Full-text screening of 183 publications was performed. Most guidelines focused on treatment of IEI, followed by diagnosis and prevention. The majority of guidelines (69.9%) were published within the last 5 years. Countries with a high sociodemographic index were involved in the development of the vast majority (98%) of guidelines. Involvement of patients and multidisciplinary teams was noted in the development of 6.5% and 5.4% of identified guidelines, respectively. The majority of guidelines (85.2%) were funded by public sources, received no funding, or did not report funding. Of specific IEI guidelines, 11.8% and 15% addressed the management of predominantly antibody deficiency and combined immunodeficiency with syndromic features, respectively. Importantly, no international consensus guidelines were found for several IEI with high prevalence. CONCLUSIONS: This review provides a comprehensive overview of peer-reviewed guidelines for the management of IEI.