Omics Approaches to Decipher Inborn Errors of Immunity and Secondary Immunodeficiencies

Dear Colleagues,

Inborn errors of immunity (IEIs) and secondary immunodeficiencies (SIDs) represent a rapidly expanding field. More than 500 genetic defects causing IEIs have been currently identified. These disorders (either IEIs or (SIDs) often manifest with severe infections, immune dysregulation, autoimmunity, and malignancies. Despite recent advances, many disease mechanisms remain incompletely understood, and diagnostic or therapeutic challenges persist.

The advent of high-throughput omics technologies has revolutionized the study of immunodeficiencies. Genomics and next-generation sequencing have enabled the discovery of novel IEI-causing genes. Transcriptomics, proteomics, metabolomics, and lipidomics are shedding light on immune cell pathways and metabolism, while single-cell and spatial multi-omics approaches are unraveling the complexity of immune responses in health and disease. Together, these approaches offer the promise of precision diagnostics, biomarkers for disease stratification, and innovative therapeutic strategies.

This Special Issue of the International Journal of Molecular Sciences will focus on the use of omics to investigate the pathophysiology, diagnosis, and treatment of inborn and acquired immunodeficiencies. We welcome original research articles and reviews covering (although not exclusively) the following topics:

1. Identification of novel IEIs genes and variants through genomics;
2. Molecular and cellular insights from transcriptomics, proteomics, metabolomics, and lipidomics;
3. Multi-omics integration to dissect mechanisms of immune dysregulation;
4. Applications of single-cell and spatial omics in immunology;
5. Biomarker discovery for prognosis, treatment response, and outcomes;
6. Omics approaches in secondary immunodeficiencies (e.g., infections, chemotherapy, autoimmunity)

By bringing together diverse contributions, this Special Issue aims to highlight how omics is reshaping the landscape of immunodeficiency research and paving the way toward precision medicine.

Dr. Francesco Saettini
Guest Editor

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