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Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype.
[oculocutaneous albinism]
Patients
with
Hermansky-
Pudlak
syndrome
type
2
(
HPS
2
)
present
with
oculocutaneous
albinism
,
nystagmus
,
prolonged
bleeding
time
,
and
increased
susceptibility
to
infections
.
Twelve
HPS
2
patients
with
mutations
in
the
β
3
A-
subunit
of
the
cytosolic
adaptor-related
protein
complex
3
(
AP
3
B
1
,
also
called
HPS
2
)
have
been
described
so
far
.
Here
,
we
report
on
a
patient
with
oculocutaneous
albinism
who
developed
a
life-threatening
bleeding
after
tonsillectomy
.
She
presented
with
moderate
neutropenia
and
reduced
granulopoiesis
.
Analyzing
patient
's
impaired
platelet
function
using
electron
microscopy
and
flow
cytometry
led
to
the
diagnosis
of
HPS
2
.
Flow
cytometric
analysis
of
the
patient
's
platelets
showed
already
elevated
CD
63
expression
on
resting
platelets
with
no
further
increase
after
thrombin
stimulation
.
Natural
killer
(
NK
)
cell
degranulation
was
partially
impaired
but
target
cell
lysis
of
NK
cells
and
cytotoxic
T
-
lymphocytes
(
CTLs
)
were
normal
and
the
patient
did
not
develop
signs
of
hemophagocytic
syndrome
.
Molecular
genetic
analyses
revealed
a
novel
2
bp-deletion
(
c
.
3222
_
3223
delTG
)
in
the
last
exon
of
AP
3
B
1
causing
a
frameshift
and
a
prolonged
altered
protein
.
The
location
of
the
deletion
at
the
very
C-
terminal
end
may
prevent
a
complete
loss
of
the
HPS
2
protein
leading
to
a
less
pronounced
severity
of
immunodeficiency
than
in
other
HPS
2
patients
.