Exome
[용어속성] Term
Thromboembolism after COVID-19 vaccine in patients with preexisting thrombocytopenia
Article
[키워드] Analysis
antibodies
capillary leak syndrome
COVID-19 vaccine
death
Diseases
effective intervention
event
Exome
first dose
Frequency
immune
Medical research
myelodysplasia
Pathogenesis
Patient
PF4
Platelet
Post-vaccine
raised
reduce
reported
SARS-COV-2 infection
second dose
Sequencing
severe disease
shown
the vaccine
thrombosis
thrombotic
Thrombotic events
vaccination
WES
while
[DOI] 10.1038/s41419-021-04058-z PMC 바로가기 [Article Type] Article
[DOI] 10.1038/s41419-021-04058-z PMC 바로가기 [Article Type] Article
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals
586,157명의 COVID-19 결과에 대한 범가계 엑솜 전체 연관성 분석
Article
[키워드] acute respiratory syndrome
acute respiratory syndrome coronavirus
Analysis
association
browser
burden
cause
center
coronavirus disease
Coronavirus disease 2019
Coronavirus-2
COVID-19
COVID-19 Host Genetics Initiative
death
Deleterious
detectable
effect size
Exome
exome sequencing
Genetic variant
genetics
Hospitalization
identify
individual
individuals
initiative
interferon pathway
multiple testing
outcome
rare variant
Rare variants
rare variants.
Regeneron
reported
Respiratory illness
Result
sample sizes
SARS-CoV-2
sequence
Seven
Severe acute respiratory syndrome
severe acute respiratory syndrome Coronavirus
severe acute respiratory syndrome coronavirus-2
severe COVID-19
susceptibility loci
therapeutic potential
TLR7
variant
with COVID-19
ZC3HAV1
[DOI] 10.1016/j.ajhg.2021.05.017 PMC 바로가기 [Article Type] Article
[DOI] 10.1016/j.ajhg.2021.05.017 PMC 바로가기 [Article Type] Article
TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19
Case Report
[키워드] acute respiratory syndrome
autoinflammatory disease
Autoinflammatory syndrome
cardiac insufficiency
children
Combination
coronavirus
coronavirus disease
COVID-19
CVID
death
Deleterious
disorder
etiology
Exome
Factor
Genetic testing
homozygous
homozygous missense variant
immunodeficiency
Infection
methotrexate
Mild
Mutation
nonspecific
occurred
parent
Prednisolone
SARS-CoV-2
Seizure
Sequencing
severe COVID-19
Symptoms
TBK1
TNFRSF13B
treated
Treatment
variant
variants
viral infection
[DOI] 10.1038/s41525-021-00220-w PMC 바로가기 [Article Type] Case Report
[DOI] 10.1038/s41525-021-00220-w PMC 바로가기 [Article Type] Case Report
Fatal COVID-19 in a Child with Persistence of SARS-CoV-2 Despite Extensive Multidisciplinary Treatment: A Case Report
Case Report
[키워드] Antiviral
Antiviral treatment
bloodstream
Care
Child
children
Continuous
Coronavirus disease 2019
Coronavirus disease 2019 (COVID-19)
COVID-19
DExH-BOX helicase 30 (DHX30)
DHX30
Exome
Extensive
extracorporeal life support (ECLS)
gastrointestinal symptoms
gene encoding
heart failure
Helicase
hyperinflammation
Hypothyroidism
immunomodulatory
Impella
Infection
initiated
invasive ventilation
microcephaly
multiple organ failure
Mutation
myocarditis
patient’s death
pediatric
Prevent
progression
Pseudomonas aeruginosa
report
resulting
RNA
SARS-CoV-2
Sequencing
severity
starting
Support
the patient
therapy
Treatment
vaccination
viral clearance
[DOI] 10.3390/children8070564 PMC 바로가기 [Article Type] Case Report
[DOI] 10.3390/children8070564 PMC 바로가기 [Article Type] Case Report
Severe COVID-19 in Hospitalized Carriers of Single CFTR Pathogenic Variants
Article
[키워드] adjusted
age
Asymptomatic
carrier
CF carrier screening
CFTR
Cohort
cohort study
Comorbidities
COVID-19
CRP
death
determine
diagnosed with COVID-19
disease
Exome
Factor
female
fibrosis
Genetic
hazard ratio
heterogeneous
higher risk
Host
host genetics
individual
Inflammatory response
involved
Italy
likelihood
male
males
mechanically ventilated patients
pandemic
presenting
progression
Regression model
Respiratory tract infections
risk
Sequencing
severe COVID-19
severely ill patients
Sex
significantly
subject
susceptible
variant
was performed
[DOI] 10.3390/jpm11060558 PMC 바로가기 [Article Type] Article
[DOI] 10.3390/jpm11060558 PMC 바로가기 [Article Type] Article
Regulatory Noncoding and Predicted Pathogenic Coding Variants of CCR5 Predispose to Severe COVID-19
CCR5의 규제 비코딩 및 예측된 병원성 코딩 변이체가 심각한 COVID-19에 걸리기 쉽습니다.
Article
[키워드] affecting
association
binding site
CCR5
ChIP
coding
coding variant
controls
correlated
COVID-19
Diseases
Exome
expression
function
functions
Gene Expression
Genetic variant
Genome-wide association studies
GWAS
GWAS dataset
hospitalized patient
independent datasets
Infection
interact
investigated
locus
lung tissue
lung tissues
nucleotide
progression
risk
risk allele
SARS-CoV-2
Sequencing
severe COVID-19
severe COVID-19 patients
significance level
Single nucleotide polymorphism
single nucleotide polymorphisms
SNP
SNPs
variants
WES
whole exome sequencing
[DOI] 10.3390/ijms22105372 PMC 바로가기 [Article Type] Article
[DOI] 10.3390/ijms22105372 PMC 바로가기 [Article Type] Article
Genetic variability in COVID-19-related genes in the Brazilian population
Article
[키워드] 1000 Genomes Project
1KGP
ABO
ACE2
ACE2 gene
Affect
allele frequency
Analysis
analyzed
angiotensin-converting enzyme 2
Brazil
Brazilian
Brazilians
candidate gene
CCR9
Clinical prognosis
contribute
country
COVID-19
COVID-19 case
COVID-19 infection
COVID-19 patients
COVID-19 severity
CTSL
CXCR6
database
disease
DQB1
DRB1
examined
Exome
exomes
explain
FYCO1
gene sequence
genetic background
genetic study
genetic variability
Genetic variation
Genome
gnomAD
help
highest
HLA allele
Host
host cells
human lung cells
identify
IL6
Immunity
implicated
individual
individual level
infect
Infection
infection with SARS-CoV-2
Influenza virus
information
International
investigated
life-threatening
loci
LZTFL1
nonsynonymous
Other
Patient
Phase 3
Pneumonia
Population
predicted
previous study
Protein
Rare variants
rate of infection
recent
receptor
recorded
reported
risk
SARS-CoV-2
SARS-COV-2 infection
Seven
shown
SLC6A20
suggested
susceptibility
therapeutic targets
TMPRSS2
transmembrane serine protease
type I interferon
unique
university
Variability
variant
Variation
viral infection
XCR1
[DOI] 10.1038/s41439-021-00146-w PMC 바로가기 [Article Type] Article
[DOI] 10.1038/s41439-021-00146-w PMC 바로가기 [Article Type] Article
Case Report: Severe Complement-Mediated Thrombotic Microangiopathy in IgG4-Related Disease Secondary to Anti-Factor H IgG4 Autoantibodies
Immunology
[키워드] amplification
Analysis
analyzed
anti-factor H auto-antibodies
antibodies
assays
Atypical hemolytic uremic syndrome
auto-antibody
autoantibodies
autoantibody
Case report
CFH
complement
Complement C3
Complement factor H
complement factor H-related protein
Corticosteroids
Cyclophosphamide
Deletion
deletions
diagnosed
disease
disorders
ELISA
ENhance
Exome
Human
IgA
IgG
IgG4
IgG4-related disease
Immunoglobulin
implicated
inhibitory
isotype
Meningitis
microangiopathy
multiplex
objective
pathogenic
Patient
performed
predisposition
presenting
probe
Remission
Result
retrospective
SARS CoV2
SARS-CoV-2 pneumonia
secondary antibody
secondary to
Sequencing
susceptibility
System
the patient
thrombotic
thrombotic microangiopathy
[DOI] 10.3389/fimmu.2020.604759 PMC 바로가기 [Article Type] Immunology
[DOI] 10.3389/fimmu.2020.604759 PMC 바로가기 [Article Type] Immunology
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
생명을 위협하는 COVID-19 환자에서 I형 IFN 면역의 선천적 오류
Research Article
[키워드] a minor
acute respiratory syndrome
acute respiratory syndrome coronavirus
acute respiratory syndrome coronavirus 2
administration
Affect
affecting
age
amplification
amplification pathway
Asymptomatic
autoantibodies
autoantibody
autoantibody system
autosomal-dominant
autosomal-recessive
Beck
biochemically
BOLD
candidate gene approach
caused
cellular
clinical
Clinical course
Clinical outcome
clinical variability
complete penetrance
complex
component
components
core gene
core genes
coronavirus
coronavirus disease
Coronavirus disease 2019
Course
COVID
COVID Human Genetic Effort
COVID-19
COVID-19 patient
COVID-19 pneumonia
Critical
Critical disease
cytokine
Cytokines
damage
dampen
deficiencies
deficiency
defined
Deleterious
dendritic cell
dendritic cells
determine
Diseases
double-stranded RNA
eight
enrichment
epidemiological studies
Exome
fibroblast
fibroblasts
Genes
genes encoding
genetic defect
genetic defects
genetics
Genome
genomics study
had milder phenotype
healthy individuals
highest
Hospitalized
Human
human fibroblasts with mutations
Hypothesis
identify
IFN
IFN response
IFN-α2
IFNAR1
IFNAR1 deficiency
IFNAR2
IFNs
IKBKG
immune system
Immunity
immunological
in healthy individuals
in some
in vitro
Inborn error
Inborn errors
incomplete penetrance
individual
induction pathway
Infection
infection with SARS-CoV-2
Infectious diseases
Influenza
influenza pneumonia
Influenza virus
inheritance
interferon
interferon regulatory factor
interferon regulatory factor 7
interferons
interferons (IFNs)
involved
IRF3
IRF7
IRF9
lack
life-threatening
likelihood
loci
LOF
loss-of-function
male
mechanism
Medical conditions
minor
minor allele frequency
molecular
molecule
molecules
monogenic inborn error
monogenic inborn errors
mutated
Mutation
NEMO
NEMO/IKBKG
Neutralizing
nonsynonymous variant
other variants
outcome
pathogen
pathogen-induced inflammation
pathway
Patient
patients
Perspective
plasmacytoid dendritic cells
pLOF
Pneumonia
predicted
Prevent
produced
rare variant
Rare variants
Regulation
respiratory
reveal
risk
risk factor
SARS-CoV-2
SARS-COV-2 infection
SARS-CoV-2 infection in vitro
Science
selected
sequenced
severe acute respiratory syndrome Coronavirus
severe acute respiratory syndrome coronavirus 2
severe coronavirus disease
severe COVID-19
Severe COVID-19 pneumonia
severe disease
Severe infection
silent infection
Stat1
STAT2
subject
susceptible
TBK1
tested
Therapeutic benefit
this system
TICAM1
TICAM1/TRIF
tissue
TLR3
Toll-like receptor
Toll-like receptor 3
TRAF3
TRIF
Type
type I
Type I IFN
type I IFNs
type I interferon
UNC93B1
underlie
variant
variants
Viral
Viral illness
viral illnesses
[DOI] 10.1126/science.abd4570 PMC 바로가기 [Article Type] Research Article
[DOI] 10.1126/science.abd4570 PMC 바로가기 [Article Type] Research Article