MycoBiomDB – Record Details (MyCo_7048)

Biomarker Record Details

Database ID: MyCo_7048
DB IDMyCo_7048
TitleBronchiectasis and Bronchiolectasis With Severe Herniating Pattern Associated With STAT1 Gain-of-Function Mutation: Detailed Clinicopathological Findings
Year2021
PMID33439110
Fungal Diseases involvedBronchiectasis and Bronchiolectasis
Associated Medical ConditionNone
GenusNone
SpeciesNone
OrganismNone
Ethical StatementNone
Site of InfectionLungs
Opportunistic invasiveNone
Sample typeBody fluid
Sample sourceBlood
Host GroupHuman
Host Common nameHuman
Host Scientific nameHomo sapiens
Biomarker NameSTAT1
Biomarker Full NameSTAT1 gain-of-function (GOF)
Biomarker TypeDiagnostic
BiomoleculeProtein
Geographical LocationCalifornia
CohortA 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 Group5
P ValueNone
SensitivityNone
SpecificityNone
Positive Predictive ValueNone
MICNone
Fold ChangeNone
PathwayNone
Disease Introduction MechanismNone
TechniqueBioinformatics analysis
Analysis MethodTrio-exome sequencing Approach
ELISA kitsNone
Assay DataNone
Validation Techniques usedTrio-exome sequencing Approach
Up Regulation Down RegulationPositive
Sequence DataNone
External LinkNone