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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
.
Diseases
Validation
Diseases presenting
"immunodeficiency"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
cushing syndrome
dracunculiasis
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
kabuki syndrome
legionellosis
malignant atrophic papulosis
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
primary hyperoxaluria type 1
pyomyositis
severe combined immunodeficiency
sneddon syndrome
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated