RNU4ATACChilblain-likeI

Nic Robertson1, Aakash Joshi2, Francesca Ritchie3

  • 1MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.

概括

在RNU4ATAC基因的突变导致生长问题和抗体缺乏. 这项研究揭示了一个新的特征:先天性免疫功能障碍,由于I型干扰素信号的改变,通常呈现为痛苦的寒状病变.

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