Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Lack of cathelicidin processing in Papillon-Lefèvre syndrome patients reveals essential role of LL-37 in periodontal homeostasis.
[papillon-lefèvre syndrome]
Loss
-of-function
point
mutations
in
the
cathepsin
C
gene
are
the
underlying
genetic
event
in
patients
with
Papillon-
Lefèvre
syndrome
(
PLS
)
.
PLS
neutrophils
lack
serine
protease
activity
essential
for
cathelicidin
LL-
37
generation
from
hCAP
18
precursor
.
We
hypothesized
that
a
local
deficiency
of
LL-
37
in
the
infected
periodontium
is
mainly
responsible
for
one
of
the
clinical
hallmark
of
PLS
:
severe
periodontitis
already
in
early
childhood
.
To
confirm
this
effect
,
we
compared
the
level
of
neutrophil-derived
enzymes
and
antimicrobial
peptides
in
gingival
crevicular
fluid
(
GCF
)
and
saliva
from
PLS
,
aggressive
and
chronic
periodontitis
patients
.
Although
neutrophil
numbers
in
GCF
were
present
at
the
same
level
in
all
periodontitis
groups
,
LL-
37
was
totally
absent
in
GCF
from
PLS
patients
despite
the
large
amounts
of
its
precursor
,
hCAP
18
.
The
absence
of
LL-
37
in
PLS
patients
coincided
with
the
deficiency
of
both
cathepsin
C
and
protease
3
activities
.
The
presence
of
other
neutrophilic
anti-microbial
peptides
in
GCF
from
PLS
patients
,
such
as
alpha-defensins
,
were
comparable
to
that
found
in
chronic
periodontitis
.
In
PLS
microbial
analysis
revealed
a
high
prevalence
of
Aggregatibacter
actinomycetemcomitans
infection
.
Most
strains
were
susceptible
to
killing
by
LL-
37
.
Collectively
,
these
findings
imply
that
the
lack
of
protease
3
activation
by
dysfunctional
cathepsin
C
in
PLS
patients
leads
to
the
deficit
of
antimicrobial
and
immunomodulatory
functions
of
LL-
37
in
the
gingiva
,
allowing
for
infection
with
A
.
actinomycetemcomitans
and
the
development
of
severe
periodontal
disease
.
Diseases
Validation
Diseases presenting
"early childhood"
symptom
22q11.2 deletion syndrome
achondroplasia
alpha-thalassemia
aniridia
aromatase deficiency
benign recurrent intrahepatic cholestasis
canavan disease
congenital adrenal hyperplasia
congenital diaphragmatic hernia
cystinuria
erythropoietic protoporphyria
fabry disease
gm1 gangliosidosis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
papillon-lefèvre syndrome
proteus syndrome
pyruvate dehydrogenase deficiency
triple a syndrome
werner syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom