Article
A Report of 2 Cases of Kidney Involvement in ADA2 Deficiency: Different Disease Phenotypes and the Tissue Response to Type I Interferon.
American journal of kidney diseases : the official journal of the National Kidney Foundation - 1 Nov 2022
Trivioli Giorgio, Gelain Elena, Angelotti Maria L, Ravaglia Fiammetta, Allinovi Marco, Lodi Lorenzo, Caroti Leonardo, Buccoliero Annamaria, Emmi Giacomo, Gattorno Marco, Romagnani Paola, Volpi Stefano, Vaglio Augusto
Abstract excerpt
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 report 2 cases of ADA2 deficiency with different kidney patterns due,...
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