Clinical Case Reports and Studies,
Journal Year:
2023,
Volume and Issue:
3(3), P. 1 - 3
Published: Oct. 12, 2023
In
the
realm
of
modern
medicine,
discovery
novel
diseases
often
presents
both
challenges
and
opportunities.
VEXAS
syndrome,
an
acronym
for
Vacuoles,
E1
enzyme,
X-linked,
Autoinflammatory,
Somatic
is
a
striking
example
unique
monogenic
disorder
that
has
recently
come
to
light.
This
syndrome
represents
bridge
between
worlds
rheumatology
hematology,
its
clinical
manifestations
have
left
clinicians
researchers
perplexed.
this
editorial,
I
will
delve
into
complexity
exploring
features,
genetic
underpinnings,
quest
effective
treatments.
Furthermore,
discuss
how
may
serve
as
prototype
new
class
blur
boundaries
hematopoiesis
inflammation.
Australasian Journal of Dermatology,
Journal Year:
2025,
Volume and Issue:
unknown
Published: April 6, 2025
ABSTRACT
VEXAS
syndrome
is
a
newly
described
autoinflammatory
and
haematologic
condition
that
has
variable
cutaneous
systemic
presentations.
We
present
case
of
in
63‐year‐old
male
with
treatment
refractory
pyoderma
gangrenosum
complex
dermatologic
history.
hope
it
informs
encourages
dermatologists
to
consider
early
diagnostic
testing
for
any
over
50
years
age
neutrophilic
dermatosis
unexplained
autoinflammation.
Journal of Clinical Medicine,
Journal Year:
2024,
Volume and Issue:
13(22), P. 6970 - 6970
Published: Nov. 19, 2024
VEXAS
syndrome
is
a
recently
identified
autoinflammatory
disorder
resulting
from
somatic
mutations
in
the
UBA1
gene,
leading
to
complex
spectrum
of
severe
inflammatory
and
hematologic
manifestations.
The
absence
established
treatment
guidelines
variability
clinical
presentation
make
its
management
particularly
challenging.
Current
therapeutic
approaches
are
often
based
on
limited
evidence,
their
effectiveness
remains
inconsistent.
This
review
seeks
consolidate
existing
knowledge
strategies
for
syndrome,
offering
critical
evaluation
efficacy
addressing
gaps
current
literature.
As
recognition
grows,
there
an
urgent
need
explore
more
targeted,
effective
treatments
that
can
address
both
aspects
disease.
By
providing
comprehensive
analysis
landscape,
this
aims
guide
clinicians
researchers
toward
developing
effective,
long-term
life-threatening
condition.
Modern Rheumatology Case Reports,
Journal Year:
2024,
Volume and Issue:
unknown
Published: Sept. 7, 2024
VEXAS
syndrome
is
a
novel
adult-onset
autoinflammatory
disorder
caused
by
variants
in
the
UBA1
gene.
Here,
we
report
Japanese
case
of
which
symptoms
began
one
day
after
second
booster
dose
coronavirus
disease
2019
(COVID-19)
messenger
ribonucleic
acid
vaccine,
and
variant
was
subsequently
confirmed.
Combined
with
three
cases
reported
thus
far,
this
suggests
that
COVID-19
vaccine
may
be
triggers
for
development
Asian
populations.
Since
vaccines
have
been
to
associated
various
autoimmune
diseases,
it
important
continue
pay
close
attention
relationship
between
syndrome.
Advances in Rheumatology,
Journal Year:
2024,
Volume and Issue:
64(1)
Published: Oct. 9, 2024
Systemic
vasculitis
is
a
group
of
rare
diseases
that
share
an
essential
characteristic:
inflammation
blood
vessel
walls.
This
injury
occurs
during
the
disease
course,
but
specific
features
vary
for
each
entity.
In
this
paper,
we
will
address
relevant
aspects
newest
monogenic
mutation
vasculitis,
such
as
deficiency
adenosine
deaminase
2
(ADA2)
and
VEXAS
syndrome
(UBA1),
other
Cogan
Susac
may
some
similarities
with
them.
Respirology Case Reports,
Journal Year:
2024,
Volume and Issue:
12(10)
Published: Oct. 1, 2024
Abstract
VEXAS
(vacuoles,
E1
enzyme,
X‐linked,
autoinflammatory,
and
somatic)
syndrome
is
a
rare
multisystem
disease
affecting
predominantly
males
over
50
manifesting
as
widespread
progressive
inflammatory
sequelae
haematological
dysfunction.
We
describe
patient
who
presented
with
systemic
symptoms
of
fevers,
night
sweats
weight
loss,
developed
including
cutaneous
lesions,
dysfunction,
lymphadenopathy,
migratory
arthropathies,
new
pulmonary
infiltrates,
following
infection
Epstein
Barr
Virus.
Laboratory
investigations,
bronchoscopy,
bone
marrow
biopsy
imaging
were
consistent
an
aetiology.
The
constellation
organ
system
involvement,
laboratory,
biopsy,
results
suspicious
for
syndrome,
this
diagnosis
was
confirmed
by
identification
somatic
mutation
in
the
UBA1
gene
extensive
exclusion
infectious
autoimmune
causes.
Interestingly
onset
coincided
serological
confirmation
Virus
raising
importance
further
exploration
into
underlying
aetiology
syndrome.
Annals of Hematology,
Journal Year:
2024,
Volume and Issue:
unknown
Published: Oct. 17, 2024
VEXAS
syndrome
(vacuoles,
E1
enzyme,
X-linked,
autoinflammatory,
somatic)
is
an
increasingly
recognized
disorder
that
occurs
due
to
somatic
mutations
of
a
ubiquitin-activating
enzyme
encoded
by
ubiquitin-like
modifier
activating
1
gene,
UBA1.
Clinical
findings
associated
with
include
recurrent
fevers,
polychondritis,
periorbital
edema,
pleural
effusions,
myocarditis
and/or
pericarditis,
hepatosplenomegaly,
myelodysplastic
syndrome,
cytopenias,
inflammatory
arthritis,
neutrophilic
dermatosis,
and
deep
venous
thrombosis.
Novel
renal
manifestations
like
interstitial
nephritis
are
infrequent,
our
knowledge,
acute
failure
C3
glomerulonephritis
(C3GN)
has
not
yet
been
reported.
Overwhelming
systemic
inflammation
can
result
in
morbid
end-organ
damage
death.
While
there
no
formal
guideline
or
established
protocol
for
its
management,
treatment
tocilizumab,
interleukin-6
(IL-6)-directed
therapy,
described
the
literature.
Here,
we
report
case
71-year-old
male
patient
presenting
C3GN
as
initial
manifestation
explore
rationale
approach
IL-6
blockade.
Our
was
initially
treated
two
inpatient
doses
tocilizumab
successful
transition
siltuximab
outpatient
setting.
He
continues
benefit
from
ongoing
more
than
one
year
date
without
any
safety
issues
relapse
syndrome.
Revista Española de Casos Clínicos en Medicina Interna,
Journal Year:
2024,
Volume and Issue:
9(2), P. 45 - 49
Published: Aug. 26, 2024
El
síndrome
VEXAS
(vacuoles,
E1
enzyme,
X-linked,
autoinflamatory,
somatic),
descrito
por
primera
vez
en
2020,
es
una
enfermedad
autoinflamatoria
monogénica
causada
mutaciones
somáticas
el
gen
UBA1,
localizado
cromosoma
X
y,
tanto,
predominantemente
expresada
varones.
La
edad
a
la
que
aparece
este
suele
ser
superior
los
60
años,
diferencia
de
otras
enfermedades
autoinflamatorias,
y
clínicamente
se
caracteriza
episodios
fiebre
periódica,
condritis
(nasal
y/o
del
pabellón
auricular),
infiltrados
pulmonares
vasculitis.
Se
presenta
caso
un
varón
76
años
con
infecciosos/inflamatorios
repetición,
diagnosticado
mediante
secuenciación
mutación
UBA1.
instauró
tratamiento
corticoideo,
requiriendo
introducción
terapia
biológica
ruxolitinib
ante
respuesta
incompleta.
Research Square (Research Square),
Journal Year:
2024,
Volume and Issue:
unknown
Published: Oct. 16, 2024
Abstract
VEXAS
syndrome
(vacuoles,
E1
enzyme,
X-linked,
autoinflammatory,
somatic)
is
an
increasingly
recognized
disorder
that
occurs
due
to
somatic
mutations
of
a
ubiquitin-activating
enzyme
encoded
by
ubiquitin-like
modifier
activating
1
gene,
UBA1.
Clinical
findings
associated
with
include
recurrent
fevers,
polychondritis,
periorbital
edema,
pleural
effusions,
myocarditis
and/or
pericarditis,
hepatosplenomegaly,
myelodysplastic
syndrome,
cytopenias,
inflammatory
arthritis,
neutrophilic
dermatosis,
and
deep
venous
thrombosis.
Novel
renal
manifestations
like
interstitial
nephritis
are
infrequent,
our
knowledge,
acute
failure
C3
glomerulonephritis
(C3GN)
has
not
yet
been
reported.
Overwhelming
systemic
inflammation
can
result
in
morbid
end-organ
damage
death.
While
there
no
formal
guideline
or
established
protocol
for
its
management,
treatment
tocilizumab,
interleukin-6
(IL-6)-directed
therapy,
described
the
literature.
Here,
we
report
case
71-year-old
male
patient
presenting
C3GN
as
initial
manifestation
explore
rationale
approach
IL-6
blockade.
Our
was
initially
treated
two
inpatient
doses
tocilizumab
successful
transition
siltuximab
outpatient
setting.
He
continues
benefit
from
ongoing
more
than
one
year
date
without
any
safety
issues
relapse
syndrome.
