| DB ID | MyCo_7195 |
| Title | Chronic mucocutaneous candidiasis: characterization of a family with STAT-1 gain-of-function and development of an ex-vivo assay for Th17 deficiency of diagnostic utility |
| Year | 2015 |
| PMID | 26621323 |
| Fungal Diseases involved | Chronic mucocutaneous candidiasis |
| Associated Medical Condition | None |
| Genus | Candida |
| Species | albicans |
| Organism | Candida albicans |
| Ethical Statement | Ethical approval for genetic testing and Th17 assays using patient samples was gained under the Genetic and Functional Characterisation of Patients with Primary Immune Deficiencies, Infectious and Inflammatory Conditions Study (REC 12/SC/0044); approval for healthy donor samples used in the Th17 assays was gained from the National Research Ethics Service (REC 14/SC/0025). |
| Site of Infection | Skin |
| Opportunistic invasive | Opportunistic |
| Sample type | Macromolecule |
| Sample source | Extracted DNA |
| Host Group | Human |
| Host Common name | Human |
| Host Scientific name | Homo sapiens |
| Biomarker Name | STAT1 GOF mutation |
| Biomarker Full Name | STAT1 GOF mutation [STAT1 (c.C820T), leading to an arginine to tryptophan substitution in the coiled-coil domain (p.R274W)] |
| Biomarker Type | Diagnostic |
| Biomolecule | Protein |
| Geographical Location | UK |
| Cohort | Fresh blood samples were acquired from healthy controls (n 5 19; median age 5 44 years; age range 5 18–62 years; M : F 5 7 : 12), patients with CMC (n 5 7; median age 28 years; age range 1–47 years; M : F 5 4 : 3); and one STAT1 wild-type individual from the kindred with CMC due to STAT1 GOF (age = 17 years; female). All samples were processed within 24 h. |
| Cohort No. | 19 |
| Age Group | 18-62 |
| 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 characterized by recurrent and persistent superficial infections with Candida albicans affecting the mucous membranes, skin and nails. It can be acquired or caused by primary immune deficiencies (PIDs), particularly those that impair interleukin (IL)-17 and IL-22 immunity. Examples of PIDs that cause CMC include hyper-immunoglobulin (Ig)E syndrome due to dominant negative STAT3 mutations (HIGE) and autosomal recessive mutations in DOCK8, IL-17F and IL-17RA deficiency, IL-12RB1 deficiency and autoimmune polyglandular syndrome 1 (APS1) due to loss-of-function mutations in the autoimmune regulator (AIRE) and the production of neutralizing autoantibodies against IL-17 and IL-22. More recently, gain-of-function (GOF) mutations in the coiledcoil and DNA binding domains of STAT1 have been found to cause autosomal-dominant CMC due to defective development and function of IL-17-producing T cells. |
| Technique | Bioinformatics analysis |
| Analysis Method | Whole exome sequencing Based |
| ELISA kits | None |
| Assay Data | None |
| Validation Techniques used | ELISA, Whole exome sequencing |
| Up Regulation Down Regulation | None |
| Sequence Data | None |
| External Link | None |
