Inborn errors of immunity (IEI) (previously known as primary immunodeficiency) are genetically defined immune disorders that have seen accelerated growth in both research and clinical attention. The genomic era and evolving classification frameworks have transformed the field, making it necessary to map its development, key contributors, and thematic shifts.
To conduct a bibliometric analysis of global IEI research from 1995 to 2025, identifying emerging trends, influential authors, key institutions, and gaps in regional representation.
A literature search was conducted using the Web of Science Core Collection (WoSCC) and PubMed databases, limited to English-language publications between 1995 and 2025. Search terms included combinations of genetic- and immune-related keywords such as “monogenic disorder,” “gene mutation,” “SCID,” “PID,” and “inborn errors of immunity.” After applying defined inclusion and exclusion criteria, a total of 840 original research articles were selected from an initial 1,236. Bibliometric mapping and visualization were performed using Bibliometrix via Shiny in R Studio and VOSviewer to analyze co-authorship networks, keyword co-occurrence, and thematic evolution.
IEI-related publications have increased steadily, with an annual growth rate of 4.5% and a notable surge between 2020 and 2023. The United States, Iran, France, and Germany emerged as leading contributors, with high-impact institutions such as the NIH, Harvard University, and Université Paris Cité playing prominent roles. Among Islamic and Arabic countries, Iran and Turkey demonstrated increasing publication activity, though overall citation impact remained relatively low. Kuwait stood out with a higher average citation rate (23.8), indicating strong influence despite a smaller volume of output. An overlay visualization of international co-authorship networks confirmed the dominance of the United States and Western Europe as central hubs. However, countries like Saudi Arabia, Kuwait, Morocco, and Iran showed a rise in research participation and collaboration since 2018, reflecting growing engagement from several Islamic and Arabic nations, particularly through partnerships with European institutions.
Thematic mapping revealed newborn screening and hematopoietic stem cell transplantation as central, well-developed motor themes, reflecting their critical and evolving role in the field. Foundational but less developed topics included common variable immunodeficiency, whole-exome sequencing, and genetic diagnostics, indicating their broad relevance yet ongoing maturation. Notably, post-2018 research trends demonstrated a pronounced shift toward precision diagnostics, highlighted by the growing prominence of next-generation sequencing and other genomic technologies.
Over the past three decades, IEI research has undergone a transformative shift from phenotype-based classification to genomics-driven approaches, mirrored by the increasing integration of precision diagnostics and translational priorities such as newborn screening and hematopoietic stem cell transplantation, now identified as active and well-developed motor themes. Thematic mapping confirmed the centrality of these evolving domains while also highlighting common variable immunodeficiency (CVID) and whole-exome sequencing as foundational but less developed areas, underscoring ongoing gaps in their clinical translation and research density. Despite substantial progress, disparities in research output and visibility persist across regions. While institutions in established research hubs continue to lead global collaborations, a notable rise in contributions from Arabic and Islamic countries signals a meaningful shift. These emerging efforts are particularly valuable for uncovering underrepresented IEI subtypes linked to consanguinity and region-specific genetic profiles, addressing critical gaps in both global datasets and regional clinical relevance. Sustaining this momentum demands targeted investment in diagnostic infrastructure, inclusive research policies, and equitable collaboration frameworks. Broadening participation from underrepresented regions is not only a matter of global equity but a necessary step toward capturing the full spectrum of IEI diversity.
