Citations 1
Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency
Joshi, Avni Y. , Ham, Erin K., Shah, Neel , Dong, Xiangyang, Khan, Shakila P. , Abraham, Roshini S.
Case Reports in Immunology | June 1, 2012 | Volume: 2012 | Issue: No issue available | Pages: 1-4
We present here a novel case of an atypical Omenn syndrome (OS) phenotype due to mutations in theADAgene 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.