Enhanced Diagnosis of Primary Immunodeficiencies, Including Bronchiectasis Cases, Using Transcriptomic Artificial Intelligence

This study presents PrimDx, a diagnostic test that applies machine learning (ML) to whole blood transcriptomic data to improve early detection and diagnosis of primary immunodeficiency (PID). Delays in PID diagnosis are common and contribute to preventable complications and morbidity, highlighting t...

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Hlavní autoři:	Benjamin G. Cocks, Narges Saeedizadeh, Emma H. Gail, Holly Pedersen, Vanessa L. Bryant, Charlotte A. Slade, Megan Rees, Jo A. Douglass, Mimi L.K. Tang, Mai Margetts, Theresa Cole, Shady Mohamed, Samantha Chan, Laura Scolamiero, Mel Berger, Simon P. Green
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Rockefeller University Press 2026-05-01
Edice:	Journal of Human Immunity
On-line přístup:	https://rupress.org/jhi/article/2/CIS2026/eCIS2026abstract.210/282045/Enhanced-Diagnosis-of-Primary-Immunodeficiencies
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