| DB ID | MyCo_3316 |
| Title | Chronic mucocutaneous candidiasis |
| Year | 2013 |
| PMID | 24120361 |
| Fungal Diseases involved | Chronic mucocutaneous candidiasis |
| Associated Medical Condition | None |
| Genus | Candida |
| Species | spp. |
| Organism | Candida spp. |
| Ethical Statement | The study was approved by the local ethics committee of Necker-Enfants Malades Hospital, Paris, France and the Rockefeller University Hospital, New York, USA. |
| Site of Infection | None |
| Opportunistic invasive | None |
| Sample type | Biopsy |
| Sample source | Extracted DNA |
| Host Group | Human |
| Host Common name | Human |
| Host Scientific name | Homo sapiens |
| Biomarker Name | ACT1 mutation-T536I |
| Biomarker Full Name | ACT1-biallelic missense mutation (T536I) |
| Biomarker Type | Diagnostic |
| Biomolecule | Protein |
| Geographical Location | France |
| Cohort | Here investigated a 30-year-old man (P1) born to consanguineous Algerian parents. At the age of eight years, he developed macrocheilitis associated with progressive chronic macroglossia. He has since suffered from recurrent oral candidiasis affecting the mouth and tongue. His sister is 28 years old (P2) and has suffered, since early childhood, from recurrent episodes of bilateral blepharitis caused by S. aureus and folliculitis decalvans (Quinquaud’s folliculitis) caused by S. aureus. She has also had occasional episodes of oral thrush due to Candida albicans and of onycomycosis due to Candida parapsilosis. |
| Cohort No. | 2 |
| Age Group | 28-30 |
| P Value | None |
| Sensitivity | None |
| Specificity | None |
| Positive Predictive Value | None |
| MIC | None |
| Fold Change | None |
| Pathway | None |
| Disease Introduction Mechanism | None |
| Technique | Analytic |
| Analysis Method | Flow Cytometry Analysis |
| ELISA kits | None |
| Assay Data | None |
| Validation Techniques used | Flow Cytometry Analysis |
| Up Regulation Down Regulation | Positive |
| Sequence Data | None |
| External Link | None |
