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Anti-CD3ε mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications.
[omenn syndrome]
Omenn
syndrome
(
OS
)
is
an
atypical
primary
immunodeficiency
characterized
by
severe
autoimmunity
because
of
activated
T
cells
infiltrating
target
organs
.
The
impaired
recombinase
activity
in
OS
severely
affects
expression
of
the
pre-
T
-
cell
receptor
complex
in
immature
thymocytes
,
which
is
crucial
for
an
efficient
development
of
the
thymic
epithelial
component
.
Anti-
CD
3
ε
monoclonal
antibody
(
mAb
)
treatment
in
RAG
2
(
-
/
-
)
mice
was
previously
shown
to
mimic
pre-
TCR
signaling
promoting
thymic
expansion
.
Here
we
show
the
effect
of
anti-
CD
3
ε
mAb
administration
in
the
RAG
2
(
R
229
Q
)
mouse
model
,
which
closely
recapitulates
human
OS
.
These
animals
,
in
spite
of
the
inability
to
induce
the
autoimmune
regulator
,
displayed
a
significant
amelioration
in
thymic
epithelial
compartment
and
an
important
reduction
of
peripheral
T
-
cell
activation
and
tissue
infiltration
.
Furthermore
,
by
injecting
a
high
number
of
RAG
2
(
R
229
Q
)
progenitors
into
RAG
2
(
-
/
-
)
animals
previously
conditioned
with
anti-
CD
3
ε
mAb
,
we
detected
autoimmune
regulator
expression
together
with
the
absence
of
peripheral
immunopathology
.
These
observations
indicate
that
improving
epithelial
thymic
function
might
ameliorate
the
detrimental
behavior
of
the
cell-autonomous
RAG
defect
.
Our
data
provide
important
therapeutic
proof
of
concept
for
future
clinical
applications
of
anti-
CD
3
ε
mAb
treatment
in
severe
combined
immunodeficiency
forms
characterized
by
poor
thymus
function
and
autoimmunity
.
Diseases
Validation
Diseases presenting
"immunodeficiency"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
cushing syndrome
dracunculiasis
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
kabuki syndrome
legionellosis
malignant atrophic papulosis
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
primary hyperoxaluria type 1
pyomyositis
severe combined immunodeficiency
sneddon syndrome
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated