Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Hypomorphic mutation in the RAG2 gene affects dendritic cell distribution and migration.
[omenn syndrome]
OS
is
a
severe
combined
immunodeficiency
characterized
by
erythrodermia
and
protracted
diarrhea
as
a
result
of
infiltration
of
oligoclonal-activated
T
cells
,
caused
by
hypomorphic
mutations
in
RAGs
.
The
RAG
2
(
R
229
Q
)
mouse
model
fully
recapitulates
the
clinical
OS
phenotype
.
We
evaluated
whether
T
and
B
cell
defects
,
together
with
the
abnormal
lymphoid
structure
,
could
affect
DC
homeostasis
and
function
.
High
density
of
LCs
was
observed
in
skin
biopsies
of
Omenn
patients
and
in
the
derma
of
RAG
2
(
R
229
Q
)
mice
,
correlating
with
the
presence
of
erythrodermia
.
In
vivo
models
of
cutaneous
skin
painting
and
CHS
demonstrated
a
decreased
migration
of
RAG
2
(
R
229
Q
)
DCs-
in
particular
,
LCs-into
draining
LNs
.
Interestingly
,
at
steady
state
,
RAG
2
(
R
229
Q
)
mice
showed
a
reduction
in
DC
number
in
all
hematopoietic
organs
except
LNs
.
Analysis
of
the
MHCII
marker
revealed
a
diminished
expression
also
upon
the
LPS-driven
inflammatory
condition
.
Despite
the
decreased
number
of
peripheral
DCs
,
BM
pre-c
DCs
were
present
in
normal
number
compared
with
RAG
2
(
+
/
+
)
controls
,
whereas
pDCs
and
monocytes
were
reduced
significantly
.
Overall
,
these
results
point
to
a
secondary
defect
in
the
DC
compartment
,
which
contributes
to
clinical
manifestations
and
autoimmunity
in
OS
.
Diseases
Validation
Diseases presenting
"protracted diarrhea as a result"
symptom
omenn syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom