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Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency

Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency We present here a novel case of an atypical Omenn syndrome (OS) phenotype due to mutations in the ADA gene encoding adenosine deaminase. This case is noteworthy for a significant increase in circulating CD56brightCD16- cytokine-producing NK cells after treatment with steroids for skin rash. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Case Reports in Immunology Hindawi Publishing Corporation

Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency

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Publisher
Hindawi Publishing Corporation
Copyright
Copyright © 2012 Avni Y. Joshi et al.
ISSN
2090-6609
eISSN
2090-6617
Publisher site
See Article on Publisher Site

Abstract

We present here a novel case of an atypical Omenn syndrome (OS) phenotype due to mutations in the ADA gene encoding adenosine deaminase. This case is noteworthy for a significant increase in circulating CD56brightCD16- cytokine-producing NK cells after treatment with steroids for skin rash.

Journal

Case Reports in ImmunologyHindawi Publishing Corporation

Published: May 31, 2012

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