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

Daniel G. Calame, Adeline Vanderver(Children's Hospital of Philadelphia), Milena M. Andzelm(Boston Children's Hospital), Cas Simons(Garvan Institute of Medical Research), Rauan Kaiyrzhanov(Tufts University), Matthew T. Whitehead(Children's National), Asako Takanohashi(Children's Hospital of Philadelphia), Anjana Sevagamoorthy(Children's Hospital of Philadelphia), Mira Gandhi(Pacific Northwest Diabetes Research Institute), Quinten Waisfisz(University Medical Center Utrecht), S. Jhangiani(Baylor College of Medicine), Donna M. Muzny(Baylor College of Medicine), Kristen Fisher(Baylor College of Medicine), Catherine Otten(Seattle Children's Hospital), J.M.F. Niermeijer(Elisabeth-TweeSteden Ziekenhuis), Danielle DeMarzo(Children's Hospital of Oklahoma), Stephen C. Wong(Seattle Children's Hospital), Heer H. Mehta(Baylor College of Medicine), Francesco Gavazzi(Children's Hospital of Philadelphia), Tejas Jammihal(Children's Hospital of Philadelphia), Henry Houlden(Queen Mary University of London), Reza Maroofian(University College London), Emma K. Wiener(Children's Hospital of Philadelphia), Moez Dawood(Baylor College of Medicine), Carlos Dominguez Gonzalez(Children's Hospital of Philadelphia), Nicole I. Wolf(Emma Kinderziekenhuis), J.R. Lupski(Baylor College of Medicine), Kaley Arnold(Children's Hospital of Philadelphia), Edward Formaini(Garvan Institute of Medical Research), Jesse Levine(Baylor College of Medicine), Sara Woidill(Children's Hospital of Philadelphia), Janhavi Lele(Children's Hospital of Philadelphia), Amy Pizzino(Children's Hospital of Philadelphia), Lisa Emrick(Baylor College of Medicine), Kathleen E. Sullivan(Children's Hospital of Philadelphia), Ivan K Chinn(Baylor College of Medicine), Darius Ebrahimi-Fakhari(Boston Children's Hospital), Laura Adang(Children's Hospital of Philadelphia), Chadi Al Alam(Tufts University), Thomas Reynolds(Tufts University), Rocio Rius(Garvan Institute of Medical Research), Russell D'Aiello(Children's Hospital of Philadelphia), Ramakrishnan Rajagopalan(Children's Hospital of Philadelphia), Arastoo Vossough(Children's Hospital of Philadelphia), Mariko Bennett(Children's Hospital of Philadelphia), Richard A. Gibbs(Baylor College of Medicine), Raphael Schiffmann(Texas Christian University), Fritz J Sedlazeck(Baylor College of Medicine), Jennifer E. Posey(Baylor College of Medicine)
medRxiv
April 1, 2026
Cited by 1


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