| DB ID | MyCo_5414 |
| Title | Chronic Mucocutaneous Candidiasis in an Adolescent Boy Due to a Novel Mutation in TRAF3IP2 |
| Year | 2019 |
| PMID | 31292894 |
| Fungal Diseases involved | Chronic mucocutaneous candidiasis |
| Associated Medical Condition | Bronchiectasis |
| Genus | None |
| Species | None |
| Organism | None |
| Ethical Statement | None |
| 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 | p.Arg283-TRAF3IP2 |
| Biomarker Full Name | p.Arg283-TRAF3IP2 |
| Biomarker Type | Diagnostic |
| Biomolecule | Gene |
| Geographical Location | India |
| Cohort | An 18-year-old boy, product of consanguineous wedlock, presented with history of repeated episodes of oral thrush and recurrent pneumonia from first year of life. On examination, he was wasted and had oral thrush and abnormal dentition; grade 2 clubbing and respiratory system examination revealed coarse crepitations. |
| Cohort No. | 1 |
| Age Group | 18 |
| 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) comprises a group of heterogeneous disorders characterized by recurrent or persistent candida infections affecting nails, skin, and mu- cus membranes. Patients with CMC are not only predisposed to candidiasis but also suffer from recurrent staphylococcal infections. Diseases known to present with CMC include hyper-IgE syndrome (due to STAT3 de- fect), STAT1 gain of function defect, mutations in IL12B and IL12RB1 (known to cause Mendelian susceptibility to mycobacterial disease), mutations in IL-17A and IL-17F, CARD9 deficiency, mutations in autoimmune regulator gene (AIRE) causing autoimmune polyendocrinopathy syndrome- 1 (APS-1), and autoantibodies against IL-17. Reduced number of Th17 or defective IL-17 signaling noted in these diseases underlies the pathogenesis of CMC, highlighting the fact that IL-17 is a key cytokine for defense against candida. Studies performed in the last decade have confirmed the role of IL-17A and IL-17F as key players in mucocutaneous immunity to Candida albicans, and, to a lesser extent, Staphylococcus aureus. |
| Technique | Bioinformatics analysis |
| Analysis Method | Next-Generation Sequencing Approach |
| ELISA kits | None |
| Assay Data | None |
| Validation Techniques used | Next-Generation Sequencing Approach |
| Up Regulation Down Regulation | Positive |
| Sequence Data | None |
| External Link | None |
