Common genetic susceptibility loci link PFAPA syndrome, Behçet’s disease, and recurrent aphthous stomatitis

著者: Kalpana Manthiram, Silvia Preite, Fatma Dedeoğlu, Selcan Demir, Seza Özen, Kathryn M. Edwards, Sivia Lapidus, Alexander Katz, The Genomic Ascertainment Cohort, Henry M. Feder, Maranda Lawton, Greg R. Licameli, Peter F. Wright, Julie Le, Karyl S. Barron, Amanda K. Ombrello, Beverly Barham, Tina Romeo, Anne Jones, Hemalatha Srinivasalu, Pamela Mudd, Roberta L. DeBiasi, Ahmet Gül, Gary S. Marshall, Olcay Y. Jones, Settara C. Chandrasekharappa, Yuriy Stepanovskiy, Polly J. Ferguson, Pamela L. Schwartzberg, Elaine F. Remmers, Daniel L. Kastner, David P. Ascher, Leslie G. Biesecker, Priscilla Chan, Thomas P. Conrads, Jennifer J. Johnston, Alexander Katz, Katie L. Lewis, G. Larry Maxwell, Justin Paschall, Henoke Shiferaw, Tyra G. Wolfsberg, Wendy S.W. Wong, Suiyuan Zhang - Proceedings of the National Academy of Sciences, PNAS 2020 被引用: 108

Significance In this report we identify genetic susceptibility variants for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, the most common periodic fever syndrome in children. PFAPA shares risk loci at IL12A , STAT4, IL10 , and CCR1-CCR3 with Behçet’s disease and recurrent aphthous stomatitis, defining a family of Behçet’s spectrum disorders. Differential HLA associations along this spectrum may determine where individual phenotypes fall among the Behçet’s spectrum disorders.