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Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency

Authors :
Avni Y. Joshi
Erin K. Ham
Neel B. Shah
Xiangyang Dong
Shakila P. Khan
Roshini S. Abraham
Source :
Case Reports in Immunology, Vol 2012 (2012)
Publication Year :
2012
Publisher :
Hindawi Limited, 2012.

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.

Details

Language :
English
ISSN :
20906609 and 20906617
Volume :
2012
Database :
Directory of Open Access Journals
Journal :
Case Reports in Immunology
Publication Type :
Academic Journal
Accession number :
edsdoj.2fcef9535ea64d509801eafde326c8df
Document Type :
article
Full Text :
https://doi.org/10.1155/2012/919241