Autosomal dominant chronic mucocutaneous candidiasis with STAT1 mutation can be associated with chronic active hepatitis: A case report

Abstract

BackgroundChronic mucocutaneous candidiasis (CMC) is a heterogeneous primary immunodeficiency disease characterized by chronic or recurrent Candida infections of the skin, nails, and mucosa and is mostly associated with STAT1 gain-of-function (GOF) mutation (GOF-STAT1 mutation).Case presentationA two-year-old girl was presented with recurrent liver dysfunction, oral candidiasis, acute bronchial pneumonia, and cytomegalovirus infection. Even after a series of treatments, including antifungal voriconazole, nystatin treatment for oral Candida, antibiotics against bacterial infection, and bicyclol to protect the liver, the child still exhibited signs of splenomegaly. Although we performed relevant etiological tests on the child and conducted histopathology and electron microscopic examination of the liver, we could not explain the clinical symptoms. So, a genetic test was conducted to clarify the diagnosis. Since the child suffered recurrent fungal infections, we speculated that she had combined immunodeficiency. Therefore we performed high-precision clinical display PLUS detection and found that the transcription factor STAT1 had a heterozygous GOF mutation (p. R274W) in its coiled-coil domain.ConclusionThe clinical manifestations of chronic mucocutaneous candidiasis caused by GOF-STAT1 mutations are complex and range from mild local fungal infections to severe systemic diseases and are sometimes fatal. Clinicians need to be aware of the possibility of this disease in children with recurrent fungal infections for early diagnosis and treatment.

Chinese Chronic Mucocutaneous Candidiasis: A Case Report Series

“… Autoimmune diabetes; Autoimmune hepatitis 11 2022 STAT1 female 1.5 years old <10Y Candida spp. Acute bronchial pneumonia; Cytomegalovirus infection 12 2022 STAT1 male 3 months >10Y (20Y) C. albicans Disseminated T. marneffei infection 13 2021 STAT1 female childhood <10Y (2Y) C. albicans hypothyroidism 14 2023 IL17RC male 1 year old >10Y (12Y) C. albicans Refractory fissured tongue 15 2023 AIRE male 6 months <10Y (2Y) √ C. albicans Retinitis pigmentosa 16 2022 AIRE male after birth >10Y Candida spp. Binocular cataract, Bypoparathyroidism, Addison’s disease 17 2017 female childhood …”