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Biomarkers of Immune Dysregulation and What They Tell Us: Gene Sequencing Is Not the Answer to Every Question.

Immunology and allergy clinics of North America - 1 May 2025

Nguyen Thinh H, Chandrakasan Shanmuganathan

Abstract excerpt

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...

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PMID: 40287167
DOI: 10.1016/j.iac.2025.01.003

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