Article

<i>PTPN1</i> -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance

2026-04-01

Abstract excerpt

<h4> Abstract </h4> <h4>Purpose</h4> Aicardi-Goutières syndrome (AGS) is a type I interferonopathy presently associated with nine genes. PTPN1 is a negative regulator of the interferon pathway previously associated with chronic inflammation and recently type 1 IFN autoinflammation. <h4>Methods</h4> Genomic data from undiagnosed individuals with suspected AGS were interrogated for PTPN1 variants, and predict...

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Literature Corpus work: 6ea89d24-a8df-5042-b487-7c20111fc2bb
DOI: 10.64898/2026.03.27.26345228

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