Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2016 Oct:177:316-320.
doi: 10.1016/j.jpeds.2016.06.058. Epub 2016 Aug 8.

Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency

Tal Ben-Ami  1 , Shoshana Revel-Vilk  2 , Rebecca Brooks  3 , Avraham Shaag  4 , Michael S Hershfield  5 , Susan J Kelly  6 , Nancy J Ganson  6 , Shlomit Kfir-Erenfeld  7 , Michael Weintraub  2 , Orly Elpeleg  4 , Yackov Berkun  3 , Polina Stepensky  2
Affiliations
Case Reports

Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency

Tal Ben-Ami et al. J Pediatr. 2016 Oct.

Abstract

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.

Keywords: autoinflammatory diseases; pure red cell aplasia; vasculitis; whole exome sequencing.

PubMed Disclaimer

Publication types

Substances

LinkOut - more resources