CD40LG induced infant ARDS

A four month old male infant presented with severe ARDS. We performed an WES and found a significant mutation in CD40LG gene, which contributed to the early on set of ARDS.

1例4月龄男性婴儿以重症急性呼吸窘迫综合征（Acute Respiratory Distress Syndrome，ARDS）为主要临床表现就诊。我们对其实施了全外显子组测序（Whole Exome Sequencing，WES），并在CD40配体基因（CD40LG）中检测到一处具有临床意义的突变，该突变与本次急性呼吸窘迫综合征的早发存在相关性。