Article

A curated transcriptome dataset collection to investigate inborn errors of immunity

2019-08-30

Abstract excerpt

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 expressivity, there...

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Literature Corpus work: fa845f2e-76ee-5959-bf57-cc74926c3af1
DOI: 10.12688/f1000research.18048.2

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