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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Autori principali:	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
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Rockefeller University Press 2026-05-01
Serie:	Journal of Human Immunity
Accesso online:	https://rupress.org/jhi/article/2/CIS2026/eCIS2026abstract.210/282045/Enhanced-Diagnosis-of-Primary-Immunodeficiencies
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