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Increased neutrophil adhesive capability in Cohen syndrome, an autosomal recessive disorder associated with granulocytopenia.
[cohen syndrome]
Cohen
syndrome
is
a
multiple
congenital
anomalies-
mental
retardation
syndrome
associated
with
granulocytopenia
.
To
date
,
the
mechanisms
involved
in
causing
the
neutropenia
are
unknown
.
In
order
to
get
insight
into
the
mechanisms
of
neutropenia
,
we
studied
both
the
bone
marrow
and
the
functional
properties
of
neutrophils
obtained
from
peripheral
blood
(
PB
)
or
skin
window
(
SW
)
exudate
of
a
patient
affected
by
Cohen
syndrome
.
Assays
of
superoxide
anion
release
(
as
reduction
of
cytochrome
C
)
and
cell
adhesion
(
quantified
by
measuring
membrane
acid
phosphatase
)
were
carried
out
according
to
a
microplate
method
whereby
both
parameters
can
be
evaluated
(
Bellavite
et
al
.
,
1992
)
.
Neutrophil
surface
integrins
and
CD
6
2
L
(
selectin
)
were
evaluated
by
flow
cytometry
.
Bone
marrow
did
not
show
relevant
morphological
abnormalities
in
either
erythroid
or
myeloid
precursors
.
Cohen
neutrophils
exhibited
a
greater
adhesive
capability
than
control
leukocytes
in
all
the
conditions
studied
(
PB
or
SW
,
unstimulated
or
agonist-stimulated
leukocytes
)
.
Cytofluorometric
evaluation
of
neutrophil
beta
2
integrin
(
CD
11
b
)
and
selectin
(
CD
6
2
L
)
showed
a
lower
mean
fluorescence
intensity
and
a
lower
percentage
of
fluorescence
conjugate
monoclonal
Ab
-
positive
cells
in
the
patient
than
in
control
subjects
.
Moreover
,
a
double
population
of
neutrophils
,
with
different
affinities
to
the
specific
monoclonal
antibody
anti-
CD
11
b
,
was
observed
in
the
patient
.
Superoxide
anion
release
,
expression
and
distribution
of
fluorescence
conjugate
MoAb
anti-human
CD
11
a
were
normal
.
Neutrophil
adhesive
capability
was
greatly
increased
in
a
case
of
Cohen
syndrome
.
Cytofluorimetric
expression
of
CD
11
b
and
CD
6
2
L
molecules
was
consistent
with
a
generalized
neutrophil
activation
in
vivo
.
Diseases
Validation
Diseases presenting
"mental retardation"
symptom
achondroplasia
alexander disease
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
classical phenylketonuria
coats disease
cohen syndrome
cowden syndrome
cystinuria
dentin dysplasia
familial hypocalciuric hypercalcemia
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
kabuki syndrome
kallmann syndrome
lamellar ichthyosis
lymphangioleiomyomatosis
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
proteus syndrome
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated