Article

Novel Mutations of TYK2 Leading to Divergent Clinical Phenotypes

2021-03-18

Abstract excerpt

<title>Abstract</title> <p>TYK2 deficiency is a rare Primary immunodeficiency disease caused by loss of function mutations of<italic> TYK2</italic> gene, which is initially proposed as a subset of Hyper IgE syndrome (HIES). However, accumulating evidence suggest TYK2 deficient patients do not necessarily present with HIES characteristics, indicating a vacuum of knowledge on the exact roles of TYK2 in human immune...

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Literature Corpus work: 2e65ad6b-38fa-5417-bf39-739576a6d53d
DOI: 10.21203/rs.3.rs-297607/v1

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