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Cytokines as genetic modifiers in K5-/- mice and in human epidermolysis bullosa simplex.
[epidermolysis bullosa simplex]
Epidermolysis
bullosa
simplex
(
EBS
)
is
a
skin
disorder
caused
by
fully-penetrant
mutations
in
the
keratin
genes
KRT
5
and
KRT
14
,
leading
to
extensive
cytolysis
and
cell
fragility
of
basal
keratinocytes
.
EBS
is
subject
to
environmental
conditions
and
displays
high
intra-
and
interfamilial
variability
,
suggesting
modifying
loci
.
Here
,
we
demonstrate
that
upregulation
of
certain
cytokines
accompanies
mutations
in
keratin
5
(
K
5
)
but
not
in
keratin
14
(
K
14
)
.
We
find
for
the
first
time
that
cytokines
macrophage
chemotactic
protein
(
MCP
)
-
1
/
[
chemokine
(
C-C
motif
)
ligand
2
]
(
CCL
2
)
,
macrophage
inflammatory
protein
(
MIP
)
-
3
beta
/
CCL
19
and
MIP
-
3
alpha
/
CCL
20
,
all
regulated
by
nuclear
factor
kappa
B
(
NFkappaB
)
and
involved
in
the
recruitment
,
maturation
,
and
migration
of
Langerhans
cells
(
LCs
)
in
the
epidermis
,
are
upregulated
in
the
skin
of
K
5
(
-
/
-
)
,
but
not
of
K
14
(
-
/
-
)
mice
.
In
neonatal
K
5
(
-
/
-
)
epidermis
,
the
number
of
LCs
was
increased
two-fold
.
At
the
same
time
,
tumor
necrosis
factor
alpha
(
TNFalpha
)
remained
unaltered
,
demonstrating
the
specificity
of
that
process
.
Most
remarkably
,
enhanced
LC
recruitment
within
the
epidermis
was
found
in
five
EBS
patients
carrying
mutations
in
the
KRT
5
gene
but
not
in
EBS
patients
with
KRT
14
gene
mutations
.
In
agreement
with
the
NFkappaB-dependent
regulation
of
these
cytokines
,
we
found
a
decrease
in
p
120
-
catenin
in
the
basal
epidermis
of
K
5
(
-
/
-
)
mice
.
These
data
provide
the
first
explanation
for
distinct
,
keratin-
type
-
specific
genotype-phenotype
correlations
in
EBS
and
represent
a
rationale
to
investigate
gene
loci
affecting
skin
pathology
in
EBS
.
Diseases
Validation
Diseases presenting
"first time"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
gm1 gangliosidosis
harlequin ichthyosis
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kabuki syndrome
kallmann syndrome
liposarcoma
locked-in syndrome
lymphangioleiomyomatosis
malignant atrophic papulosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
pendred syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
trochlear dysplasia
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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