{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"medRxiv"}],"indexed":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T20:56:55Z","timestamp":1782766615289,"version":"3.54.5"},"posted":{"date-parts":[[2026,4,1]]},"group-title":"Neurology","reference-count":52,"publisher":"openRxiv","license":[{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2026,4,1]]},"abstract":"<jats:title>\n                  <jats:bold>Abstract<\/jats:bold>\n                <\/jats:title>\n                <jats:sec>\n                  <jats:title>Purpose<\/jats:title>\n                  <jats:p>\n                    Aicardi-Gouti\u00e8res syndrome (AGS) is a type I interferonopathy presently associated with nine genes.\n                    <jats:italic>PTPN1<\/jats:italic>\n                    is a negative regulator of the interferon pathway previously associated with chronic inflammation and recently type 1 IFN autoinflammation.\n                  <\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>\n                    Genomic data from undiagnosed individuals with suspected AGS were interrogated for\n                    <jats:italic>PTPN1<\/jats:italic>\n                    variants, and predicted loss-of-function (pLOF) and damaging missense variants in\n                    <jats:italic>PTPN1<\/jats:italic>\n                    were sought in two additional academic databases as well as the\n                    <jats:italic>All of Us<\/jats:italic>\n                    database.\n                  <\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>\n                    We identified 13 cases with ultra-rare heterozygous pLOF or highly damaging missense variants in\n                    <jats:italic>PTPN1<\/jats:italic>\n                    . Nine cases were identified in a cohort of 53 individuals (\u223c 17%) with clinical, imaging and persistent biochemical features of AGS. Median age of onset is 1.75 years (IQR 0.67), significantly later (p&lt; 0.0001) than other AGS genotypes. Four additional cases were identified in academic datasets with variable clinical features suggestive of autoinflammation. Additionally, 49 individuals with ultra-rare, damaging\n                    <jats:italic>PTPN1<\/jats:italic>\n                    variants were identified in the\n                    <jats:italic>All of Us<\/jats:italic>\n                    database, none had features suggestive of AGS, but autoimmunity was highly prevalent (\u223c21.6%).\n                  <\/jats:p>\n                <\/jats:sec>\n                <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>\n                    Our data implicate\n                    <jats:italic>PTPN1<\/jats:italic>\n                    as a cause of later-onset presentations of AGS within a broader spectrum of autoinflammatory phenotypes. Segregation and biobank data demonstrate reduced penetrance, with carriers being enriched for autoimmune disorders.\n                  <\/jats:p>\n                <\/jats:sec>","DOI":"10.64898\/2026.03.27.26345228","type":"posted-content","created":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T18:25:19Z","timestamp":1775067919000},"source":"Crossref","is-referenced-by-count":1,"title":["<i>PTPN1<\/i>\n                  -related autoinflammation is a common cause of Aicardi-Gouti\u00e8res Syndrome with reduced penetrance"],"prefix":"10.64898","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6860-372X","authenticated-orcid":false,"given":"Daniel G.","family":"Calame","sequence":"first","affiliation":[{"name":"Section of Pediatric Neurology and Developmental Neurosciences, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA"},{"name":"Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA"},{"name":"Jan and Dan Duncan Neurological Research 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