PAPA , Riccardo

Sterile inflammation characterizes a heterogeneous group of primary immunodeficiency disorders named autoinflammatory diseases (AID). Less than 30% of AID patients are molecularly defined. To increase the diagnostic rate and treatment outcome in patients with undefined AID, "omics" technologies, as the next-generation sequencing and mass...

BACKGROUND:Female carriers of Duchenne muscular dystrophy (DMD), although usually asymptomatic, developmuscle weakness up to 17% of the time, and a third present cardiac abnormalities or cognitive impairment. Clinicalfeatures of DMD carriers during childhood are poorly known.PATIENTS:We describe a cohort of pediatric DMDcarriers, providing...