Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency

Case Reports Immunol. 2012:2012:919241. doi: 10.1155/2012/919241. Epub 2012 May 31.

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 CD56(bright)CD16- cytokine-producing NK cells after treatment with steroids for skin rash.