Periodic fever syndrome

Una PFAPA che diventa un Behçet

Cafolla C, Iacono A, Guiducci C, Mambelli L, Marchetti F

2021/4 — pag. 226-229 — DOI

PFAPA syndrome (periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis) is the most common periodic fever syndrome in children. The disease appears to cluster in families, but the pathogenesis is unknown. The paper reports the descrip...

Le sindromi autoinfiammatorie: quando non è solo PFAPA

Tommasini A, Lepore L

2021/4 — pag. 221-225 — DOI

PFAPA (Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis) is the most common self-inflammatory disorder in children. The diagnosis of PFAPA is easy, based on Thomas criteria, and the prognosis is good. Differential diagnosis with heredita...

PFAPA e cortisone Linfadenite da Bartonella Coliche gassose e allergia al latte vaccino.

2014/1 — pag. 57-58

Difetto di mevalonato-chinasi: molte facce di una stessa malattia

C. De Pieri, A. Insalaco, A. Taddio, E. Barbi, L. Lepore, A. Tommasini, A. Ventura

2013/8 — pag. 501-506

Mevalonate kinase deficiency (MKD), also known as Hyper IgD syndrome, is an inborn error of metabolism characterized by inflammatory dysregulation and, in most severe cases, neurodevelopmental delay. The clinical phenotype of each patient depends o...