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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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- Abstract:
- BACKGROUND: A scoping review was conducted for the European Society for Immunodeficiencies (ESID) Clinical Working Party (CWP) to evaluate clinical management guidelines for Inborn Errors of Immunity (IEIs). The goal was to identify gaps to inform future guideline development, thereby supporting improved clinical practice and patient outcomes. METHODS: A search strategy was developed in collaboration with the ESID CWP 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 (IUIS) IEI classification criteria, incorporating Emtree and MeSH terms with Boolean and proximity operators. Titles and abstracts were screened by two independent reviewers using predefined eligibility criteria. RESULTS: 183 publications underwent full-text screening. Most guidelines focused on treatment of IEIs, followed by diagnosis and prevention. The majority of guidelines (69.9%) were published within the last 5 years. Countries of a high sociodemographic index were involved in the development of the vast majority (98%) of guidelines. Patient involvement and multi-disciplinary team involvement 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. 11.8% and 15% of specific IEI guidelines addressed the management of primary antibody deficiency (PAD) and combined immunodeficiency (CID) with syndromic features, respectively. Importantly, no international consensus guidelines were found for several high prevalence IEIs. CONCLUSION: This review provides a comprehensive overview of peer-reviewed guidelines for the management of IEIs.