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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
"relevant morphological abnormalities in either erythroid"
symptom
cohen syndrome
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