ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study

Author:

Caorsi Roberta,Penco Federica,Grossi Alice,Insalaco Antonella,Omenetti Alessia,Alessio Maria,Conti Giovanni,Marchetti Federico,Picco Paolo,Tommasini Alberto,Martino Silvana,Malattia Clara,Gallizi Romina,Podda Rosa Anna,Salis Annalisa,Falcini Fernanda,Schena Francesca,Garbarino Francesca,Morreale Alessia,Pardeo Manuela,Ventrici Claudia,Passarelli Chiara,Zhou Qing,Severino Mariasavina,Gandolfo Carlo,Damonte Gianluca,Martini Alberto,Ravelli Angelo,Aksentijevich Ivona,Ceccherini Isabella,Gattorno Marco

Publisher

BMJ

Subject

General Biochemistry, Genetics and Molecular Biology,Immunology,Immunology and Allergy,Rheumatology

Reference23 articles.

1. Early-onset stroke and vasculopathy associated with mutations in ADA2;Zhou;N Engl J Med,2014

2. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy;Navon Elkan;N Engl J Med,2014

3. Monogenic polyarteritis: the lesson of ADA2 deficiency;Caorsi;Pediatr Rheumatol Online J,2016

4. Human adenosine deaminases ADA1 and ADA2 bind to different subsets of immune cells;Kaljas;Cell Mol Life Sci,2017

5. Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency;Van Eyck;J Allergy Clin Immunol,2015

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