Article

Novel mutations of TYK2 leading to divergent clinical phenotypes

2021-05-28

Abstract excerpt

<h4>Background: </h4> TYK2 deficiency is a rare Primary immunodeficiency disease caused by loss of function mutations of TYK2 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 system. <h4>Method:</h...

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Literature Corpus work: 9901fb89-07d4-551f-acbc-986e13304142
DOI: 10.22541/au.162220379.96111399/v1

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