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 CD56brightCD16- cytokine-producing NK cells after treatment with steroids for skin rash.
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2012-01-01
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| Series: | Case Reports in Immunology |
| Online Access: | http://dx.doi.org/10.1155/2012/919241 |
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| _version_ | 1832563896280416256 |
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| author | Avni Y. Joshi Erin K. Ham Neel B. Shah Xiangyang Dong Shakila P. Khan Roshini S. Abraham |
| author_facet | Avni Y. Joshi Erin K. Ham Neel B. Shah Xiangyang Dong Shakila P. Khan Roshini S. Abraham |
| author_sort | Avni Y. Joshi |
| collection | DOAJ |
| 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 CD56brightCD16- cytokine-producing NK cells after treatment with steroids for skin rash. |
| format | Article |
| id | doaj-art-2fcef9535ea64d509801eafde326c8df |
| institution | Kabale University |
| issn | 2090-6609 2090-6617 |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Immunology |
| spelling | doaj-art-2fcef9535ea64d509801eafde326c8df2025-02-03T01:12:15ZengWileyCase Reports in Immunology2090-66092090-66172012-01-01201210.1155/2012/919241919241Atypical Omenn Syndrome due to Adenosine Deaminase DeficiencyAvni Y. Joshi0Erin K. Ham1Neel B. Shah2Xiangyang Dong3Shakila P. Khan4Roshini S. Abraham5Division of Pediatric and Adult Allergy and Immunology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN 55905, USADepartment of Internal Medicine, Mayo Clinic, Rochester, MN 55905, USADepartment of Medical Genetics, Mayo Clinic, Rochester, MN 55905, USADepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USADivision of Pediatric Hematology and Oncology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN 55905, USADepartment of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USAWe 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 CD56brightCD16- cytokine-producing NK cells after treatment with steroids for skin rash.http://dx.doi.org/10.1155/2012/919241 |
| spellingShingle | Avni Y. Joshi Erin K. Ham Neel B. Shah Xiangyang Dong Shakila P. Khan Roshini S. Abraham Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency Case Reports in Immunology |
| 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 |
| url | http://dx.doi.org/10.1155/2012/919241 |
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