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.

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Bibliographic Details
Published in:Case reports in immunology 2012-01, Vol.2012 (2012), p.1-4
Main Authors: Ham, Erin K., Joshi, Avni Y., Shah, Neel B., Dong, Xiangyang, Khan, Shakila P., Abraham, Roshini S.
Format: Article
Language:English
Subjects:
Case Report
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Description
Summary: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.
ISSN:2090-6609
2090-6617
DOI:10.1155/2012/919241