Article

TRAF3IP2 variants in a child with chronic mucocutaneous candidiasis- keeping an open mind!

2021-05-28

Abstract excerpt

<h4>Background: </h4> Inherited chronic mucocutaneous candidiasis (CMC) is often caused by inborn errors of immunity, impairing the response to, or the production of IL-17A and IL-17F. About half of the cases carry STAT1 gain-of-function (GOF) mutations. Only few patients have been reported with mutations of TRAF3IP2, a gene encoding the adaptor ACT1 essential for IL-17-receptor(R) -signaling. We investigated a 10...

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Literature Corpus work: df37da41-d636-592c-aa97-a6dfaa3b79b5
DOI: 10.22541/au.162220877.78615359/v1

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