ReviewOrphanet journal of rare diseases2026
Global research landscape of inborn errors of immunity: a bibliometric analysis (1991-2025).
Review in Orphanet journal of rare diseases, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
Abstract
backgroundInborn 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.
methodsThis 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.
resultsKey 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.
conclusionThis 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.
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What Socratic holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.