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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| Автори: | , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Wiley
2012-01-01
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| Серія: | Case Reports in Immunology |
| Онлайн доступ: | http://dx.doi.org/10.1155/2012/919241 |
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