Rethinking PIDs: Why the distinction between primary and secondary immune disorders is more frequently relevant than that between inborn and acquired errors of immunity
Journal of Allergy and Clinical Immunology,
Journal Year:
2024,
Volume and Issue:
153(6), P. 1543 - 1545
Published: Feb. 3, 2024
Language: Английский
Inborn errors of immunity: manifestation, treatment, and outcome - an ESID registry 1994-2024 report on 30,628 patients
medRxiv (Cold Spring Harbor Laboratory),
Journal Year:
2025,
Volume and Issue:
unknown
Published: Feb. 21, 2025
Abstract
The
European
Society
for
Immunodeficiencies
patient
registry
(ESID-R),
established
in
1994,
is
one
of
the
world’s
largest
databases
on
inborn
errors
immunity
(IEI).
IEI
are
genetic
disorders
predisposing
patients
to
infections,
autoimmunity,
inflammation,
allergies
and
malignancies.
Treatments
include
antimicrobial
therapy,
immunoglobulin
replacement,
immune
modulation,
stem
cell
transplantation
gene
therapy.
Data
from
194
centers
33
countries
capture
clinical
manifestations
treatments
birth
onward,
with
annually
expected
updates.
This
report
reviews
ESID-R’s
structure,
data
content,
impact.
includes
30,628
datasets
(aged
0–97.9
years;
median
follow-up:
7.2
total
825,568.2
patient-years),
13,550
cases
15
sub-studies.
It
has
produced
84
peer-reviewed
publications
(mean
citation
rate:
95).
Findings
real-world
observations
diagnoses,
causes,
manifestations,
treatments,
survival
trends.
ESID-R
fosters
global
collaboration,
advancing
research
care.
highlights
key
role
multi-national
ESID-R,
led
by
an
independent
medical
society,
evidence-based
discovery.
Summary
Worldwide,
most
registries
national,
limited
geographical
temporal
scope.
30-year
ESID
analysis
patients’
longitudinal
enables
robust
epidemiological
studies
natural
disease
courses
including
diagnosis,
treatment,
survival,
supporting
expanded
newborn
screening
future
AI
applications
research.
Language: Английский
NF-κB pathway variants in Iranian patients with inborn errors of immunity
Expert Review of Clinical Immunology,
Journal Year:
2025,
Volume and Issue:
unknown
Published: May 4, 2025
Clinical
and
immunological
manifestations
associated
with
genetic
alterations
are
crucial
for
understanding
inborn
errors
of
immunity
(IEI).
This
study
aims
to
characterize
the
clinical
profiles
provide
molecular
features
IEI
patients
from
Iranian
population
who
harbor
rare
variants
in
nuclear
factor
kappa
B
(NF-κB)
pathway.
Peripheral
blood
mononuclear
cells
(PBMCs)
were
used
immunophenotyping
T
lymphocyte
subsets
via
flow
cytometry
assessing
cell
proliferation.
Immunoblotting
was
performed
evaluate
expression
levels
NF-κB
proteins.
multi-center
enrolled
16
mutations
NFKB1,
NFKB2,
IKBKB,
IKBKG
genes.
NFKB1
NFKB2
heterozygous,
while
IKBKB
homozygous
mutation
hemizygous.
Patients
exhibited
hypogammaglobulinemia
switched
memory
abnormalities.
revealed
decreased
NF-κB1
protein
most
cases.
Similarly,
led
lower
unstimulated
PBMCs,
mild
strong
reductions
after
stimulation,
though
some
cases
showed
no
significant
changes.
identifies
novel
pathway
defects.
Further
comprehensive
evaluation
functional
analysis
these
warranted
confirm
their
impact
on
disease
manifestation.
Language: Английский
Unmasking inborn errors of immunity: identifying the red flags of immune dysregulation
Frontiers in Immunology,
Journal Year:
2024,
Volume and Issue:
15
Published: Dec. 19, 2024
Inborn
errors
of
immunity
(IEI)
are
rare
diseases
that
affect
the
immune
system.
According
to
latest
International
Union
Immunological
Societies
(IUIS)
classification,
485
different
IEI
have
been
identified.
Even
if
increased
susceptibility
infections
is
best-known
symptom,
no
longer
defined
by
higher
likelihood
alone.
Immune
dysregulation
with
autoimmune
disease
and
hyperinflammation,
lymphoproliferation,
malignancy
common
manifestations
could
be
only
symptoms
must
recognized.
An
exclusive
focus
on
infection-centered
warning
signs
would
miss
around
25%
patients
who
initially
present
other
manifestations.
Timely
appropriate
diagnosis
treatment
essential
enhance
quality
life
(QoL)
and,
in
some
cases,
survival,
as
susceptible
life-threatening
or
autoimmunity.
In
addition,
advantage
early
(i.e.
Language: Английский