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.

Bibliographic Details
Main Authors: Joshi, Avni Y., Ham, Erin K., Shah, Neel B., Dong, Xiangyang, Khan, Shakila P., Abraham, Roshini S.
Format: Online
Language:English
Published: Hindawi Publishing Corporation 2012
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412092/