Article

A curated transcriptome dataset collection to investigate inborn errors of immunity

2019-02-01

Abstract excerpt

<h4>ABSTRACT</h4> Primary immunodeficiencies (PIDs) are a heterogeneous group of inherited disorders, frequently caused by loss-of-function and less commonly by gain-of-function mutations, which can result in susceptibility to a broad or a very narrow range of infections but also in inflammatory, allergic or malignant diseases. Owing to the wide range in clinical manifestations and variability in penetrance and e...

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Literature Corpus work: be153fce-0c01-5829-900a-cce6b21965fe
DOI: 10.1101/526004

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