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Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency

  • Joshi A
  • Ham E
  • Shah N
  • et al.
Case Reports in Immunology (2012) 2012 1-4
DOI: 10.1155/2012/919241
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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.

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Joshi, A. Y., Ham, E. K., Shah, N. B., Dong, X., Khan, S. P., & Abraham, R. S. (2012). Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency. Case Reports in Immunology, 2012, 1–4. https://doi.org/10.1155/2012/919241

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