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Development of central nervous system autoimmunity is impaired in the absence of Wiskott-Aldrich syndrome protein.
[wiskott-aldrich syndrome]
Wiskott-
Aldrich
Syndrome
protein
(
WASP
)
is
a
key
regulator
of
the
actin
cytoskeleton
in
hematopoietic
cells
.
Defective
expression
of
WASP
leads
to
multiple
abnormalities
in
different
hematopoietic
cells
.
Despite
severe
impairment
of
T
cell
function
,
WAS
patients
exhibit
a
high
prevalence
of
autoimmune
disorders
.
We
attempted
to
induce
EAE
,
an
animal
model
of
organ-
specific
autoimmunity
affecting
the
CNS
that
mimics
human
MS
,
in
Was
(
-
/
-
)
mice
.
We
describe
here
that
Was
(
-
/
-
)
mice
are
markedly
resistant
against
EAE
,
showing
lower
incidence
and
milder
score
,
reduced
CNS
inflammation
and
demyelination
as
compared
to
WT
mice
.
Microglia
was
only
poorly
activated
in
Was
(
-
/
-
)
mice
.
Antigen-induced
T
-
cell
proliferation
,
Th-
1
and
-
17
cytokine
production
and
integrin-dependent
adhesion
were
increased
in
Was
(
-
/
-
)
mice
.
However
,
adoptive
transfer
of
MOG
-activated
T
cells
from
Was
(
-
/
-
)
mice
in
WT
mice
failed
to
induce
EAE
.
Was
(
-
/
-
)
mice
were
resistant
against
EAE
also
when
induced
by
adoptive
transfer
of
MOG
-activated
T
cells
from
WT
mice
.
Was
(
+
/
-
)
heterozygous
mice
developed
an
intermediate
clinical
phenotype
between
WT
and
Was
(
-
/
-
)
mice
,
and
they
displayed
a
mixed
population
of
WASP-
positive
and
-
negative
T
cells
in
the
periphery
but
not
in
their
CNS
parenchyma
,
where
the
large
majority
of
inflammatory
cells
expressed
WASP
.
In
conclusion
,
in
absence
of
WASP
,
T
-
cell
responses
against
a
CNS
autoantigen
are
increased
,
but
the
ability
of
autoreactive
T
cells
to
induce
CNS
autoimmunity
is
impaired
,
most
probably
because
of
an
inefficient
T
-
cell
transmigration
into
the
CNS
and
defective
CNS
resident
microglial
function
.
Diseases
Validation
Diseases presenting
"demyelination"
symptom
adrenomyeloneuropathy
alexander disease
canavan disease
classical phenylketonuria
homocystinuria without methylmalonic aciduria
kallmann syndrome
krabbe disease
locked-in syndrome
neonatal adrenoleukodystrophy
neuralgic amyotrophy
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
sneddon syndrome
waldenström macroglobulinemia
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated