Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency
نویسندگان
چکیده
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.
منابع مشابه
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عنوان ژورنال:
دوره 2012 شماره
صفحات -
تاریخ انتشار 2012