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

Media type: E-Article
Title: Common genetic susceptibility loci link PFAPA syndrome, Behçet’s disease, and recurrent aphthous stomatitis
Contributor: Manthiram, Kalpana; Preite, Silvia; Dedeoglu, Fatma; Demir, Selcan; Ozen, Seza; Edwards, Kathryn M.; Lapidus, Sivia; Katz, Alexander E.; Feder, Henry M.; Lawton, Maranda; Licameli, Greg R.; Wright, Peter F.; Le, Julie; Barron, Karyl S.; Ombrello, Amanda K.; Barham, Beverly; Romeo, Tina; Jones, Anne; Srinivasalu, Hemalatha; Mudd, Pamela A.; DeBiasi, Roberta L.; Gül, Ahmet; Marshall, Gary S.; Jones, Olcay Y.; [...]
Published: Proceedings of the National Academy of Sciences, 2020
Published in: Proceedings of the National Academy of Sciences, 117 (2020) 25, Seite 14405-14411
Language: English
DOI: 10.1073/pnas.2002051117
ISSN: 0027-8424; 1091-6490
Origination:
Footnote:
Description: 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.
Access State: Open Access

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