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.

Detalles Bibliográficos
Autores principales: Joshi, Avni Y., Ham, Erin K., Shah, Neel B., Dong, Xiangyang, Khan, Shakila P., Abraham, Roshini S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412092/
https://www.ncbi.nlm.nih.gov/pubmed/25954555
http://dx.doi.org/10.1155/2012/919241
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author Joshi, Avni Y.
Ham, Erin K.
Shah, Neel B.
Dong, Xiangyang
Khan, Shakila P.
Abraham, Roshini S.
author_facet Joshi, Avni Y.
Ham, Erin K.
Shah, Neel B.
Dong, Xiangyang
Khan, Shakila P.
Abraham, Roshini S.
author_sort Joshi, Avni Y.
collection PubMed
description 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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spelling pubmed-44120922015-05-07 Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency Joshi, Avni Y. Ham, Erin K. Shah, Neel B. Dong, Xiangyang Khan, Shakila P. Abraham, Roshini S. Case Reports Immunol Case Report 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. Hindawi Publishing Corporation 2012 2012-05-31 /pmc/articles/PMC4412092/ /pubmed/25954555 http://dx.doi.org/10.1155/2012/919241 Text en Copyright © 2012 Avni Y. Joshi et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Joshi, Avni Y.
Ham, Erin K.
Shah, Neel B.
Dong, Xiangyang
Khan, Shakila P.
Abraham, Roshini S.
Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency
title Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency
title_full Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency
title_fullStr Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency
title_full_unstemmed Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency
title_short Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency
title_sort atypical omenn syndrome due to adenosine deaminase deficiency
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412092/
https://www.ncbi.nlm.nih.gov/pubmed/25954555
http://dx.doi.org/10.1155/2012/919241
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AT shahneelb atypicalomennsyndromeduetoadenosinedeaminasedeficiency
AT dongxiangyang atypicalomennsyndromeduetoadenosinedeaminasedeficiency
AT khanshakilap atypicalomennsyndromeduetoadenosinedeaminasedeficiency
AT abrahamroshinis atypicalomennsyndromeduetoadenosinedeaminasedeficiency

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