GELAIN , Elena

Adenosine deaminase 2 (ADA2) deficiency is a rare autosomal recessive disease that is caused by loss-of-function mutations in the ADA2 gene. It is considered a monogenic form of polyarteritis nodosa and frequently is positive for a type I interferon (IFN) signature. Renal manifestations in ADA2 deficiency are poorly characterized. We herein...

Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis is extremely rare in children. We report the clinico-pathological features, long-term outcomes, and prognostic factors of a large paediatric cohort of patients with ANCA-associated kidney vasculitis.