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

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Bibliografiske detaljer
Udgivet i:Case Reports Immunol
Main Authors: Joshi, Avni Y., Ham, Erin K., Shah, Neel B., Dong, Xiangyang, Khan, Shakila P., Abraham, Roshini S.
Format: Artigo
Sprog:Inglês
Udgivet: Hindawi Publishing Corporation 2012
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4412092/
https://ncbi.nlm.nih.gov/pubmed/25954555
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2012/919241
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