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Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome.
Sangiorgi E, Azzarà A, Molinario C, Pietrobono R, Rigante D, Verrecchia E, Sicignano LL, Genuardi M, Gurrieri F, Manna R. Sangiorgi E, et al. Among authors: sicignano ll. Eur J Hum Genet. 2019 Sep;27(9):1361-1368. doi: 10.1038/s41431-019-0421-6. Epub 2019 May 3. Eur J Hum Genet. 2019. PMID: 31053777 Free PMC article. Review.
Non-thrombotic inflammatory venous involvement in a patient with Sweet's syndrome, suggesting a complex autoinflammatory disease.
Nesci A, Carnuccio C, Santoro L, Di Giorgio A, D'Alessandro A, Verrecchia E, Sicignano LL, Manna R, Santoliquido A. Nesci A, et al. Among authors: sicignano ll. Clin Exp Rheumatol. 2022 Sep;40(8):1601-1602. doi: 10.55563/clinexprheumatol/vd7csn. Epub 2022 Jul 27. Clin Exp Rheumatol. 2022. PMID: 35916292 Free article. No abstract available.
Diagnostic Criteria for Adult-Onset Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome.
Cantarini L, Vitale A, Sicignano LL, Emmi G, Verrecchia E, Patisso I, Cerrito L, Fabiani C, Cevenini G, Frediani B, Galeazzi M, Rigante D, Manna R. Cantarini L, et al. Among authors: sicignano ll. Front Immunol. 2017 Aug 24;8:1018. doi: 10.3389/fimmu.2017.01018. eCollection 2017. Front Immunol. 2017. PMID: 28970828 Free PMC article.
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