Global research landscape of inborn errors of immunity: a bibliometric analysis (1991-2025)

Inborn errors of immunity (IEI), though individually rare, collectively represent a significant disease burden. From 1980 to 2024, classified IEI disorders expanded from dozens to 559 entities, reflecting advances ranging from immunoglobulin replacement to gene therapy.

This bibliometric analysis-a comprehensive mapping of the global IEI landscape-analyzed 7,455 publications (1991-2025) from Web of Science Core Collection using Bibliometrix, VOSviewer, and CiteSpace.

Key findings: (1) Annual publication growth: 10.27% (H-index = 173); (2) US dominance: 36.3% publications, 115,221 citations, and TLS = 105,825; (3) Research priorities: Immunodeficiency mechanisms, clinical diagnostics, and key diseases (SCID, CVID, APDS); (4) Therapeutic frontiers: HSCT, gene therapy, targeted signaling inhibitors. (5) Critical gaps: Newborn screening implementation, quality-of-life metrics.

This study provide a comprehensive, multidimensional visualization of the IEI research landscape over 35 years. Although the field maintains a high H-index and broad scope, the pace of research growth appears to have stabilized in the past five years. It is important to note that the observed flattening in total citation counts during this period may be influenced by citation windows and pandemic-related confounding, and should not be interpreted as definitive evidence of field maturity or stagnation. Nonetheless, this observed pattern highlights that that sustaining historical growth rates may require transformative technological advances-particularly in gene editing-to catalyze the next wave of progress in IEI research.