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Joshi AY, Ham EK, Shah NB, et al. Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency. Case Reports Immunol. 2012;2012:919241doi: 10.1155/2012/919241.
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, 2012919241. https://doi.org/10.1155/2012/919241
Joshi, Avni Y, et al. "Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency." Case reports in immunology vol. 2012 (2012): 919241. doi: https://doi.org/10.1155/2012/919241
Joshi AY, Ham EK, Shah NB, Dong X, Khan SP, Abraham RS. Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency. Case Reports Immunol. 2012;2012:919241. doi: 10.1155/2012/919241. Epub 2012 May 31. PMID: 25954555; PMCID: PMC4412092.
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Case Reports Immunol. 2012;2012:919241. doi: 10.1155/2012/919241. Epub 2012 May 31.

Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency.

Case reports in immunology

Avni Y Joshi, Erin K Ham, Neel B Shah, Xiangyang Dong, Shakila P Khan, Roshini S Abraham

Affiliations

  1. Division of Pediatric and Adult Allergy and Immunology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN 55905, USA ; Department of Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA.
  2. Department of Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA.
  3. Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USA.
  4. Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA.
  5. Division of Pediatric Hematology and Oncology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN 55905, USA.

PMID: 25954555 PMCID: PMC4412092 DOI: 10.1155/2012/919241

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.

References

  1. Eur J Haematol. 2007 Jul;79(1):81-5 - PubMed
  2. Blood. 1995 Apr 15;85(8):2105-13 - PubMed
  3. Pediatr Res. 1993 Jan;33(1 Suppl):S42-7; discussion S47-8 - PubMed
  4. Tissue Antigens. 2005 Jul;66(1):19-25 - PubMed
  5. J Allergy Clin Immunol. 2008 Dec;122(6):1082-6 - PubMed
  6. Ann Hum Genet. 2007 May;71(Pt 3):336-47 - PubMed
  7. Clin Immunol. 2011 Sep;140(3):284-90 - PubMed
  8. J Allergy Clin Immunol. 2008 Apr;121(4):1056-8 - PubMed
  9. N Engl J Med. 1965 Aug 19;273:427-32 - PubMed
  10. Allergol Int. 2006 Jun;55(2):115-9 - PubMed

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