Coinfection of Leprosy and Chronic Mucocutaneous Candidiasis in a Family with STAT1 Gain-of-Function Mutation

Am J Trop Med Hyg. 2024 Nov 5;112(1):124-127. doi: 10.4269/ajtmh.24-0290. Print 2025 Jan 8.

Abstract

This report documents the first known cases of lepromatous leprosy in patients with chronic mucocutaneous candidiasis (CMC) linked to a gain-of-function mutation in the STAT1 gene. Two related patients, a mother and daughter, who both suffer from CMC and lepromatous leprosy, carry a heterozygous STAT1 mutation (c.821G>A; p.R274Q). Both individuals exhibited similarly high levels of total and phosphorylated STAT1 in CD4+ T cells and decreased interleukin 17A transcripts. This mutation underscores a complex relationship between genetic susceptibility to infections and the necessity to evaluate each case individually.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • CD4-Positive T-Lymphocytes / immunology
  • Candidiasis, Chronic Mucocutaneous* / genetics
  • Coinfection / genetics
  • Female
  • Gain of Function Mutation*
  • Genetic Predisposition to Disease
  • Humans
  • Interleukin-17 / genetics
  • Leprosy / complications
  • Leprosy / genetics
  • Male
  • Middle Aged
  • STAT1 Transcription Factor* / genetics

Substances

  • STAT1 Transcription Factor
  • STAT1 protein, human
  • Interleukin-17