Emerging trends and research hot spots in inborn error of immunity: A bibliometric perspective.

Abstract

Inborn errors of immunity (IEIs) are an expanding group of genetically defined disorders associated with infections, autoimmunity, and malignancy. Advances in high- throughput genomics and updates to international classifications have reformed the field, shifting from phenotype-based descriptions to molecular frameworks. Bibliometric analysis offers a structured approach to mapping research growth, collaboration, and thematic evolution. We analyzed global IEI research from 1995 to 2025 using bibliometric methods, focusing on publication trends, collaboration networks, leading contributors, and thematic shifts. Publications were retrieved from Web of Science Core Collection and PubMed. After screening, 840 original articles were analyzed with Biblioshiny and VOSviewer to assess citation patterns, coauthorship, thematic clusters, and keyword evolution. IEI research (n = 840; 333 journals; 7,466 authors) increased at 4.5% annually, with a marked rise after 2018 after next-generation sequencing and International Union of Immunologic Societies classification updates. The United States produced the largest output, while European countries had a higher citation impact per article. Collaboration was strongest between North America and Europe, with other regions remaining more domestically focused. Thematic mapping revealed a transition from clinical phenotypes to genetic, multiomic, and precision frameworks, alongside growing focuses on autoinflammation, immune dysregulation, and rare disease subgroups. Over 3 decades, IEI research has expanded substantially, reflecting a paradigm shift toward molecular discovery and international collaboration. Persistent regional disparities highlight the need for inclusive genomic studies and equitable partnerships, providing strategic insights to advance clinical immunology and enhance care for patients with rare immune disorders.