Article
Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.
The Journal of pediatrics - 1 Oct 2016
Ben-Ami Tal, Revel-Vilk Shoshana, Brooks Rebecca, Shaag Avraham, Hershfield Michael S, Kelly Susan J, Ganson Nancy J, Kfir-Erenfeld Shlomit, Weintraub Michael, Elpeleg Orly, Berkun Yackov, Stepensky Polina
Abstract excerpt
Adenosine deaminase 2 deficiency is an autoinflammatory disease, characterized by various forms of vasculitis. We describe 5 patients with adenosine deaminase 2 deficiency with various hematologic manifestations, including pure red cell aplasia, with no evidence for vasculitis.
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