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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
"skin biopsies"
symptom
cadasil
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
fabry disease
harlequin ichthyosis
junctional epidermolysis bullosa
kindler syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
omenn syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
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