| DB ID | MyCo_7227 |
| Title | Case Report: Disseminated Talaromyces marneffei Infection in a Patient With Chronic Mucocutaneous Candidiasis and a Novel STAT1 Gain-of-Function Mutation |
| Year | 2021 |
| PMID | 34421897 |
| Fungal Diseases involved | Chronic mucocutaneous candidiasis |
| Associated Medical Condition | Talaromyces marneffei Infection |
| Genus | Candida |
| Species | albicans |
| Organism | Candida albicans |
| Ethical Statement | This study was approved by the Research Ethics Board of Hangzhou First People’s Hospital. The patients/participants provided their written informed consent to participate in this study. Written informed consent was obtained from the individual(s), and minor(s)’ legal guardian/next of kin, for the publication of any potentially identifiable images or data included in this article. |
| Site of Infection | None |
| Opportunistic invasive | None |
| Sample type | Body fluid |
| Sample source | Blood |
| Host Group | Human |
| Host Common name | Human |
| Host Scientific name | Homo sapiens |
| Biomarker Name | Y287N-STAT1 |
| Biomarker Full Name | Y287N mutation- Signal transducer and activator of transcription 1 |
| Biomarker Type | Diagnostic |
| Biomolecule | Protein |
| Geographical Location | China |
| Cohort | Three months after birth, the patient had recurrent mycotic stomatitis, tinea capitis and onychomycosis. He had a poor physique throughout childhood and often went to the hospital because of Candida dermatitis |
| Cohort No. | None |
| Age Group | None |
| P Value | None |
| Sensitivity | None |
| Specificity | None |
| Positive Predictive Value | None |
| MIC | None |
| Fold Change | None |
| Pathway | None |
| Disease Introduction Mechanism | Chronic mucocutaneous candidiasis (CMC) is classified as a primary immunodeficiency disease by the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency in 2015 (1). It primarily presents as recurrent and persistent superficial infections with Candida albicans, affecting the mucous membranes, skin and nails (2, 3). CMC is associated with an impaired Th17 cell response caused by signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations. STAT1 GOF mutations, which occur in the functional coiled-coiled domain or the DNA-binding domain of STAT1, are the genetic etiology for CMC, and they can cause host susceptibility to bacteria, viruses, and intracellular bacteria addition to Candida albicans. |
| Technique | Bioinformatics analysis |
| Analysis Method | whole-exome sequencing |
| ELISA kits | None |
| Assay Data | None |
| Validation Techniques used | whole-exome sequencing, Flow Cytometry Analysis |
| Up Regulation Down Regulation | Positive |
| Sequence Data | None |
| External Link | None |
