P156: PTPN1-related autoinflammation is a common cause of Aicardi Goutières syndrome with reduced penetrance

Genetics in Medicine Open 2026 Open access

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Authors: Emma K. Wiener, Daniel G. Calame, Francesco Gavazzi, Anjana Sevagamoorthy, Matthew T. Whitehead, Arastoo Vossough, Amy M. Pizzino, Kaley Arnold, Mariko L. Bennett, Laura Ann Adang, Tejas R. Jammihal, Sarah Woidill
+13 more Russell D’Aiello, Asako Takanohashi, Janhavi Lele, Danielle DeMarzo, Jesse M. Levine, Ivan Kingyue Chinn, Kristen S. Fisher, Mira Gandhi, Lisa T. Emrick, James Lupski, Kathleen Sullivan, Ramakrishnan Rajagopalan, Adeline L. Vanderver
DOI: 10.1016/j.gimo.2026.103650
Cited by: 0

Abstract

Aicardi-Goutières syndrome (AGS) is a type I interferonopathy associated with nine genes, in which self-DNA/RNA triggers an upregulation of the type I interferon (IFN) response. PTPN1 encodes PTP1B, a negative regulator of the interferon receptor 1 previously associated with chronic inflammatory pathologies. Furthermore, PTPN1 haploinsufficiency was recently reported to cause a type 1 IFN autoinflammatory encephalopathy with evidence of reduced penetrance. We therefore investigated the prevalence of PTPN1 variants in a large cohort of patients without a molecular diagnosis but suspected of having AGS.

Fields of Study & Subjects

interferon and immune responses Inflammasome and immune disorders Immunodeficiency and Autoimmune Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103650–103650
Publication date
1 January 2026
Language
EN