Research in the field of inborn errors of immunity (IEI) has significantly advanced our understanding of genetic defects that predispose individuals to infectious diseases. Despite these gains, the complex interplay between host genetic factors and the diverse pathogens they encounter presents considerable challenges in elucidating the determinants of infection. Persistent questions remain regarding how specific immune defects influence the clinical course, spectrum, and severity of infections in affected individuals. Notably, recent investigations have highlighted novel genetic variants linked to unusual infectious susceptibilities, and ongoing debates focus on how best to leverage these findings to improve clinical management.

Innovations in genomic technologies and model systems have uncovered new mechanistic insights into how pathogenic microorganisms exploit host vulnerabilities in IEI. Pivotal studies have delineated molecular pathways disrupted in monogenic immune disorders, identifying critical checkpoints in antimicrobial defence.

Additionally, next-generation diagnostic approaches, such as high-throughput sequencing and advanced biomarker discovery, are increasingly able to pinpoint immune deficiencies and inform patient-specific therapy. However, integrating mechanistic, clinical, and diagnostic advances to better predict, detect, and treat infections in IEI remains an urgent priority. Critical knowledge gaps persist regarding uncharacterized immune pathways, environmental modifiers, and the spectrum of clinically significant pathogens in this population.

This Research Topic aims to bring together cutting-edge research and expert perspectives to clarify how genetic and pathogenic factors combine to drive infection risk and clinical outcomes in IEI. The objective is to foster a deeper understanding of host–pathogen dynamics, explore the translational value of mechanistic discoveries, and assess the impact of emerging diagnostic techniques. By addressing these focal points, this topic seeks to bridge experimental findings with clinical practice, ultimately advancing precision medicine for individuals with inborn errors of immunity.

The scope of this Research Topic encompasses basic, translational, and clinical studies advancing our understanding of infections in IEI, with a focus on both mechanistic and diagnostic aspects. It does not cover unrelated immunodeficiencies or generalized infection risk outside the context of genetically defined IEI.

To gather further insights in these areas, we welcome articles addressing, but not limited to, the following themes:

• Molecular mechanisms of host susceptibility to infection in IEI
• Characterization of novel genetic variants impacting immune response
• Environmental and microbiota influences on infection risk in IEI
• Advances in pathogen detection and functional diagnostics
• Biomarkers for infection prediction and patient stratification
• Genotype-phenotype associations and clinical case studies
• Therapeutic strategies targeting host-pathogen interactions in IEI

Are you interested in contributing a manuscript to this Research Topic?

Host–Pathogen Determinants of Infection in Inborn Errors of Immunity: Mechanistic Insights and Diagnostic Advances