Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency

Author:

Tal Ben-Ami   MD1   *   tal.ben.ami11@gmail.com" class="auth_mail" title="E-mail the corresponding author   Shoshana Revel-Vilk   MD   MSc1   *   Rebecca Brooks   MD2   Avraham Shaag   PhD3   Michael S. Hershfield   MD4   Susan J. Kelly   PhD5   Nancy J. Ganson   PhD5   Shlomit Kfir-Erenfeld   PhD6   Michael Weintraub   MD1   Orly Elpeleg   MD3   Yackov Berkun   MD2   Polina Stepensky   MD1  

Journal:

The Journal of Pediatrics

Issue Date:

2016

Abstract(summary):

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.

Page:

316-320