ANTONINI , Francesca

Background: Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder caused by sporadic heterozygous mutations in ACVR1 gene which progressively leads to severe heterotopic ossification. FOP is characterized by episodic flare-ups triggered by different factors such as viral infections, tissue injuries, vaccinations, or occurring...

Background: There is little information on the trajectory and developmental fate of Lin(-)CD34(+)DNAM-1(bright) CXCR4(+) progenitors exiting bone marrow during systemic inflammation. Objective: To study Lin(-)CD34(+)DNAM-1(bright) CXCR4(+) cell circulation in cancer patients, to characterize their entry into involved lung tissue and to...

Adenosine deaminase 2 deficiency (DADA2) is an autoinflammatory disease characterized by inflammatory vasculopathy, early strokes associated often with hypogammaglobulinemia. Pure red cell aplasia, thrombocytopenia, and neutropenia have been reported. The defect is due to biallelic loss of function of ADA2 gene, coding for a protein known to...

No description