| DB ID | MyCo_5067 |
| Title | Three Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors |
| Year | 2022 |
| PMID | 36050429 |
| Fungal Diseases involved | Chronic mucocutaneous candidiasis |
| Associated Medical Condition | None |
| Genus | Candida |
| Species | albicans |
| Organism | Candida albicans |
| Ethical Statement | This study was approved by the Regional Ethical Review Board in Stockholm, Sweden (reg. no. 2017/1964–31). |
| 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 | Granzyme H |
| Biomarker Full Name | Granzyme H |
| Biomarker Type | Diagnostic |
| Biomolecule | Protein |
| Geographical Location | Sweden |
| Cohort | Patient data was gathered during admission to the Department of Infectious Diseases at the Karolinska University Hospital, at Uppsala University Hospital and from medical records of Umeå University Hospital, Sahlgrenska Univer- sity Hospital and Region Västernorrland, Sweden. Informed consent was obtained from all three patients. The aim of this study was to characterize clinical effects and biomarkers in three patients with chronic mucocutaneous candidiasis (CMC) caused by gain-of-function (GOF) mutations in the STAT1 gene during treatment with Janus kinase (JAK) inhibitors. |
| Cohort No. | 3 |
| 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 a clinical syndrome with inborn errors of IL-17 immunity, characterizing a group of primary immunodeficiencies with persistent inflammation in mucous membranes, caused by Candida species, most often C. albicans. The clinical picture of this syndrome is heterogeneous, with both chronic and acute infections, as well as autoimmune manifestations. In addition, cerebral aneurysms may occur, but are rare. STAT1 gain of function (GOF) mutations are the most prevalent mutations in this syndrome. |
| Technique | Analytic |
| Analysis Method | Mass cytometry (CyTOF) Analysis |
| ELISA kits | None |
| Assay Data | None |
| Validation Techniques used | Mass cytometry (CyTOF) Analysis |
| Up Regulation Down Regulation | Down regulated |
| Sequence Data | None |
| External Link | None |
