由于STAT1功能增益突变的慢性粘膜皮质候群病患者的复发性肠炎和肠道阻塞

Mingfen Luo1,2, Huan Huang1,3, Hanhui Nie1

  • 1Dermatology Hospital, Southern Medical University, Guangzhou, China.

Mycopathologia
|December 20, 2024
PubMed
概括

这项研究详细介绍了一种罕见的慢性粘膜皮质候群病例,与STAT1功能增益 (GOF) 突变有关,呈现出不寻常的肠道阻塞. 这些发现突出了STAT1 GOF.潜在的新临床表现.

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