Biomarkers of Immune Dysregulation and What They Tell Us : Gene Sequencing Is Not the Answer to Every Question - 12/03/25

Résumé |
Primary immune regulatory disorders (PIRDs) are inborn errors of immunity, with autoimmune, hyperinflammatory, and lymphoproliferative manifestations as presenting features rather than recurrent infections. Genetic testing remains the primary tool for diagnosing patients with immune defects. Not all suspected PIRDs have a known genetic cause. Many hyperinflammatory disorders require urgent intervention, limiting the usefulness of gene sequencing in some cases. Current clinically approved immunology tests can detect immune dysregulation even without apparent immune deficiency. This review presents commonly known patterns of immune dysregulation that can be detected with currently available immune testing and additional testing in the clinical immunology laboratories’ pipeline.
Le texte complet de cet article est disponible en PDF.Keywords : Immune dysregulation, T-cell activation, B-cell dysregulation, Clinical immune laboratory tests
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