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.

Saved in:
Bibliographic Details
Main Authors: Avni Y. Joshi, Erin K. Ham, Neel B. Shah, Xiangyang Dong, Shakila P. Khan, Roshini S. Abraham
Format: Article
Language:English
Published: Wiley 2012-01-01
Series:Case Reports in Immunology
Online Access:http://dx.doi.org/10.1155/2012/919241
Tags: Add Tag
No Tags, Be the first to tag this record!