| DB ID | MyCo_7048 |
| Title | Bronchiectasis and Bronchiolectasis With Severe Herniating Pattern Associated With STAT1 Gain-of-Function Mutation: Detailed Clinicopathological Findings |
| Year | 2021 |
| PMID | 33439110 |
| Fungal Diseases involved | Bronchiectasis and Bronchiolectasis |
| Associated Medical Condition | None |
| Genus | None |
| Species | None |
| Organism | None |
| Ethical Statement | None |
| Site of Infection | Lungs |
| Opportunistic invasive | None |
| Sample type | Body fluid |
| Sample source | Blood |
| Host Group | Human |
| Host Common name | Human |
| Host Scientific name | Homo sapiens |
| Biomarker Name | STAT1 |
| Biomarker Full Name | STAT1 gain-of-function (GOF) |
| Biomarker Type | Diagnostic |
| Biomolecule | Protein |
| Geographical Location | California |
| Cohort | A 5 year-old female presented to our institution with failure to thrive, hypothyroidism, recurrent pneumonia, recurrent otitis media, intractable oral candidiasis, and generalized bronchiectasis was included in the study. |
| Cohort No. | 1 |
| Age Group | 5 |
| P Value | None |
| Sensitivity | None |
| Specificity | None |
| Positive Predictive Value | None |
| MIC | None |
| Fold Change | None |
| Pathway | None |
| Disease Introduction Mechanism | None |
| Technique | Bioinformatics analysis |
| Analysis Method | Trio-exome sequencing Approach |
| ELISA kits | None |
| Assay Data | None |
| Validation Techniques used | Trio-exome sequencing Approach |
| Up Regulation Down Regulation | Positive |
| Sequence Data | None |
| External Link | None |