4.6 Article

Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency

Journal

JOURNAL OF PEDIATRICS
Volume 177, Issue -, Pages 316-320

Publisher

MOSBY-ELSEVIER
DOI: 10.1016/j.jpeds.2016.06.058

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Funding

  1. Deutsche Forschungsgemeinschaft (DECIDE) [DFG WA 1597/4-1]
  2. Joint Research Fund of the Hebrew University and Hadassah Medical Organization

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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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