Research on Inborn Errors of Immunity: A bibliometric analysis spanning over 50 years of international collaboration, trends, and impact

Background: Inborn errors of immunity (IEI) are a rapidly expanding group of genetic disorders, with over 550 diseases now classified. While research output is growing, a comprehensive global bibliometric analysis of the entire field is lacking. Methods: Publications were identified by the keywords "primary immunodeficiency diseases" and "inborn errors of immunity." Data was processed using custom Python scripts to analyze productivity, impact, and collaboration networks among authors, institutions, journals, and countries. A novel, disease-centric analysis was performed by quantifying publication volume and citations for 516 specific IEIs using a comprehensive dictionary of disease terms. Results: The analysis included 4,653 publications. The United States produced the highest volume of publications and citations. A disease-specific analysis of 516 IEI found that Common Variable Immunodeficiency (CVID) and Severe Combined Immunodeficiency (SCID) had the highest publication and citation counts. Of the diseases searched, 189 were not represented in the literature. Annual publication data showed a decrease in publications relating to the term "Primary Immunodeficiency diseases" after 2021, while publications using "Inborn Errors of Immunity" increased. Conclusions: This study provides the first comprehensive bibliometric analysis of the global IEI research landscape. It maps the field's core contributors and collaborative networks, while introducing a novel, disease-centric analysis that quantitatively identifies disparities in research focus across the spectrum of IEIs, potentially guiding policies and resource allocation.