A case of chronic mucocutaneous candidiasis caused by STAT1 gain-of-function mutation and literature review

Abstract

Objective To summarize the clinical characteristics, diagnosis and treatment of chronic mucocutaneous candidiasis(CMC). Methods The case diagnosed as CMC in the Department of Nephrology and Immunology of Shenzhen Children's Hospital in February 24, 2014 was analyzed in terms of symptoms, signs, laboratory findings, gene tests and treatment process, and related literature was reviewed. Results The patient was a 14-year-old boy.The patient started to develop recurrent oral candida infection shortly after birth, then candida infection of skins and nails, which could be alleviated by antifungal agents, but easily relapsed.Since 4 years ago, autoimmune reactions such as autoimmune anemia, thrombocytopenia, leucopenia, proteinuria, and hypothyroidism had successively appeared, and cytopenia began to palliate after administering Glucocorticoid and Cyclosporin, but easily relapsed when the dosage was reduced.The genetic test showed the case was of signal transducer and activator of transcription 1(STAT1) gain-of-function mutation.During the hospitalization, hemophagocytic syndrome (HPS) and stagnation of hematopoietic function successively occurred.The cytopenia did not improve and the patient suffered severe infection in spite of washing red blood cells 13 times and blood palate 3 times via infusion, together with high dosage of Dexamethasone and Cyclosporine.The peripheral blood cells and bone marrow gradually returned to normal after being treated by human granulocyte colony-stimulating factor combined with Dexamethasone and Cyclosporin.Retrieving the database in PubMed database, 824 articles were found which were about CMC, and 39 of them were about the STAT1 gain-of-function mutation, including 120 cases.But there was only 1 domestic case in 2012, who was a three-year-old child, manifesting recurrent fungal infection of the skin. Conclusions STAT1 gain-of-function acquired mutation is one of the reasons that can lead to CMC.Autoimmune reactions prominently represented by cytopenia occur in a few patients with CMC.It should be alert on those who are with CMC and simultaneously with autoimmune reaction of blood system.And gene tests facilitate the early diagnosis. Key words: Chronic mucocutaneous candidiasis; Anemia; Hemophagocytic syndrome; Signal transducer and activator of transcription 1; Granulocyte colony-stimulating factor