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Recurrent Enteritis and Intestinal Obstruction in a Patient with Chronic Mucocutaneous Candidiasis due to STAT1

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

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

Mycopathologia
|December 20, 2024
PubMed

Insights

This study details a rare case of chronic mucocutaneous candidiasis linked to a STAT1 gain-of-function (GOF) mutation, presenting with unusual intestinal obstruction. The findings highlight a potential new clinical manifestation of STAT1 GOF.

Area of Science:

  • Immunology
  • Genetics
  • Gastroenterology

Background:

  • Chronic mucocutaneous candidiasis (CMC) is often associated with immune dysregulation.
  • Signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations can lead to various immune deficiencies.
  • Gastrointestinal manifestations in STAT1 GOF patients are less commonly reported.
Keywords:
Chronic mucocutaneous candidiasisEnteritisIntestinal obstructionSTAT1 GOF mutationpSTAT1

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