The Journal of Experimental Medicine,
Journal Year:
2024,
Volume and Issue:
222(2)
Published: Dec. 16, 2024
Autosomal
recessive
deficiency
of
the
IFNAR1
or
IFNAR2
chain
human
type
I
IFN
receptor
abolishes
cellular
responses
to
IFN-α,
-β,
and
-ω,
underlies
severe
viral
diseases,
is
globally
very
rare,
except
for
in
Western
Polynesia
Arctic,
respectively.
We
report
11
alleles,
products
which
impair
but
do
not
abolish
IFN-α
-ω
without
affecting
IFN-β.
Ten
these
alleles
are
rare
all
populations
studied,
remaining
allele
(P335del)
common
Southern
China
(minor
frequency
≈2%).
Cells
heterozygous
variants
display
a
dominant
phenotype
vitro
with
impaired
susceptibility.
Negative
dominance,
rather
than
haploinsufficiency,
accounts
this
dominance.
Patients
prone
attesting
both
dominance
clinically
importance
protective
immunity
against
some
viruses.
The Journal of Experimental Medicine,
Journal Year:
2025,
Volume and Issue:
222(7)
Published: April 14, 2025
Outbreaks
of
chilblains
were
reported
during
the
COVID-19
pandemic.
Given
essential
role
type
I
interferon
(I-IFN)
in
protective
immunity
against
SARS-CoV-2
and
association
with
inherited
interferonopathies,
we
hypothesized
that
excessive
I-IFN
responses
to
might
underlie
occurrence
this
context.
We
identified
a
transient
signature
chilblain
lesions,
accompanied
by
an
acral
infiltration
activated
plasmacytoid
dendritic
cells
(pDCs).
Patients
otherwise
asymptomatic
or
had
mild
disease
without
seroconversion.
Their
leukocytes
produced
abnormally
high
levels
upon
TLR7
stimulation
agonists
ssRNA
viruses—particularly
SARS-CoV-2—but
not
DNA
TLR9
dsDNA
virus
HSV-1.
Moreover,
patients’
pDCs
displayed
cell-intrinsic
hyperresponsiveness
regardless
levels.
Inherited
deficiency
confers
predisposition
life-threatening
COVID-19.
Conversely,
our
findings
suggest
enhanced
activity
predisposed
individuals
could
confer
innate,
pDC-mediated,
sterilizing
infection,
I-IFN–driven
as
trade-off.
European Journal of Immunology,
Journal Year:
2025,
Volume and Issue:
55(4)
Published: April 1, 2025
Autoantibodies
neutralizing
Type
I
interferons
increase
the
risk
of
severe
viral
diseases
and
are
linked
to
autoimmune
conditions.
The
automated
VIDAS
assay
is
suitable
for
anti-IFN-α2
IgGs
quantification,
offering
a
swift,
reliable,
user-friendly,
single
test
clinical
management.
FEBS Journal,
Journal Year:
2025,
Volume and Issue:
unknown
Published: April 29, 2025
Recent
evidence
suggests
that
type
I
interferon
(IFN‐I)
signalling
extends
beyond
its
canonical
roles
in
antiviral
defence
and
immunomodulation.
Over
the
past
decade,
dysregulated
IFN‐I
has
been
linked
to
genetic
disorders
neurodegenerative
diseases,
where
it
may
contribute
neurological
impairments.
Microglia
have
emerged
as
key
mediators
of
responses
central
nervous
system.
A
distinct
transcriptional
state
responsive
interferons
recently
identified
microglia.
The
activation
pathway
these
cells
is
now
recognised
pivotal
both
development
neurodegeneration.
This
review
divided
into
two
main
sections:
first
examines
broader
role
system,
particularly
contribution
dysfunction;
second
focuses
on
specific
interferon‐responsive
microglia,
exploring
mechanisms
relevance
conditions.
Finally,
we
discuss
how
areas
intersect
their
implications
for
healthy
diseased
states.
Immunological Reviews,
Journal Year:
2024,
Volume and Issue:
unknown
Published: Sept. 28, 2024
Summary
Enteric
viruses
are
the
main
cause
of
acute
gastroenteritis
worldwide
with
a
significant
morbidity
and
mortality,
especially
among
children
aged
adults.
Some
enteric
also
disseminated
infections
severe
neurological
manifestations
such
as
poliomyelitis.
Protective
immunity
against
these
is
not
well
understood
in
humans,
most
knowledge
coming
from
animal
models,
although
development
poliovirus
rotavirus
vaccines
has
extended
our
knowledge.
In
classical
view,
innate
involves
recognition
foreign
DNA
or
RNA
by
pathogen
receptors
leading
to
production
interferons
other
inflammatory
cytokines.
Antigen
uptake
presentation
T
cells
B
then
activate
adaptive
and,
case
mucosal
immunity,
induce
secretion
dimeric
IgA,
more
potent
immunoglobulins
viral
neutralization.
The
study
Inborn
errors
(IEIs)
offers
natural
opportunity
nonredundant
toward
pathogens.
viruses,
patients
defective
antibodies
at
risk
developing
complications.
Moreover,
recent
description
low
absent
antibody
protracted
associated
hepatitis
reinforces
prominent
role
control
virus.
International Journal of Molecular Sciences,
Journal Year:
2024,
Volume and Issue:
25(21), P. 11624 - 11624
Published: Oct. 29, 2024
Extensive
research
has
been
conducted
on
the
SARS-CoV-2
virus
in
association
with
various
infectious
diseases
to
understand
pathophysiology
of
infection
and
potential
co-infections.
In
tropical
countries,
exposure
local
viruses
may
alter
course
coinfection.
Notably,
only
a
portion
antibodies
produced
against
proteins
demonstrate
neutralizing
properties,
immune
response
following
natural
tends
be
temporary.
contrast,
long-lasting
IgG
are
common
after
dengue
infections.
cases
where
preexisting
from
an
initial
bind
different
serotype
during
subsequent
infection,
there
is
for
antibody-dependent
enhancement
(ADE)
formation
complexes
associated
disease
severity.
Both
infections
can
result
immunodeficiency.
Viral
both
interfere
host's
IFN-I
signaling.
Additionally,
cytokine
storm
occur
viral
impairing
proper
response,
autoantibodies
wide
array
appear
convalescence.
Most
reported
typically
short-lived.
Vaccines
affecting
enhancing
clearance.
A
comprehensive
analysis
pathogenicity
revisited
prevent
severity,
mortality.
Human Molecular Genetics,
Journal Year:
2024,
Volume and Issue:
unknown
Published: Dec. 16, 2024
Abstract
Type
I
interferonopathies
are
severe
monogenic
diseases
caused
by
mutations
that
result
in
chronically
upregulated
production
of
type
interferon.
They
present
with
a
broad
variety
symptoms,
the
mechanisms
which
being
extensively
studied.
Mouse
models
an
important
resource
for
this
purpose,
and
context,
we
review
several
key
molecular
phenotypic
findings
advancing
our
understanding
respective
diseases.
We
focus
on
genotypes
related
to
nucleic
acid
metabolism,
sensing
cytosolic
receptors
downstream
signalling.
The Journal of Experimental Medicine,
Journal Year:
2024,
Volume and Issue:
222(2)
Published: Dec. 16, 2024
Autosomal
recessive
deficiency
of
the
IFNAR1
or
IFNAR2
chain
human
type
I
IFN
receptor
abolishes
cellular
responses
to
IFN-α,
-β,
and
-ω,
underlies
severe
viral
diseases,
is
globally
very
rare,
except
for
in
Western
Polynesia
Arctic,
respectively.
We
report
11
alleles,
products
which
impair
but
do
not
abolish
IFN-α
-ω
without
affecting
IFN-β.
Ten
these
alleles
are
rare
all
populations
studied,
remaining
allele
(P335del)
common
Southern
China
(minor
frequency
≈2%).
Cells
heterozygous
variants
display
a
dominant
phenotype
vitro
with
impaired
susceptibility.
Negative
dominance,
rather
than
haploinsufficiency,
accounts
this
dominance.
Patients
prone
attesting
both
dominance
clinically
importance
protective
immunity
against
some
viruses.
