Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
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First Korean case of a STAT1 gene mutation: chronic mucocutaneous candidiasis, hypothyroidism, chronic hepatitis and systemic lupus erythematosus

  • Kim, Kang-in (Department of Pediatrics, Soonchunhyang University Seoul Hospital) ;
  • Lee, Hanbyul (Department of Pediatrics, Soonchunhyang University Seoul Hospital) ;
  • Jung, So Yoon (Department of Pediatrics, Soonchunhyang University Seoul Hospital) ;
  • Lee, Dong Hwan (Department of Pediatrics, Soonchunhyang University Seoul Hospital) ;
  • Lee, Jeongho (Department of Pediatrics, Soonchunhyang University Seoul Hospital)
  • Received : 2018.05.16
  • Accepted : 2018.07.25
  • Published : 2018.12.31
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Abstract

Chronic mucocutaneous candidiasis (CMC) is characterized by increased susceptibility to chronic and recurrent infections of the skin, mucous membranes, and nails by Candida species. It is a primary immunodeficiency disorder that is difficult to diagnose because of its heterogeneous clinical manifestations and genetic background. A 20-month-old boy who did not grow in height for 3 months was diagnosed as having hypothyroidism and he had hepatitis which was found at 5 years old. He presented with persistent oral thrush and vesicles on the body, the cause of which could not be identified from laboratory findings. No microorganism was detected in the throat culture; however, the oral thrush persisted. Immunological tests showed that immunoglobulin (Ig) subclass IgG and cluster of differentiation (CD)3, CD4, and CD8 levels were within normal limits. We prescribed oral levothyroxine and fluconazole mouth rinse. The patient was examined using diagnostic exome sequencing at the age of 6 years, and a c.1162A>G (p.K388E) STAT1 gene mutation was identified. A diagnosis of CMC based on the STAT1 gene mutation was, thus, made. At the age of 8 years, the boy developed a malar-like rash on his face. We conducted tests for detection of antinuclear antibodies and anti-dsDNA antibodies, which showed positive results; therefore, systemic lupus erythematosus (SLE) was also suspected. Whole exome sequencing is important to diagnose rare diseases in children. A STAT1 gene mutation should be suspected in patients with chronic fungal infections with a thyroid disease and/or SLE.

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References

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