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Clinical characteristics and outcomes of chédiak-Higashi syndrome: a nationwide survey of Japan.
[oculocutaneous albinism]
Chédiak-
Higashi
syndrome
(
CHS
)
is
a
rare
autosomal
recessive
disorder
characterized
by
immunodeficiency
,
neurological
dysfunction
,
and
oculocutaneous
albinism
.
Recently
,
several
clinical
CHS
phenotypes
have
been
reported
.
Here
,
we
report
results
of
a
nationwide
survey
performed
to
clarify
clinical
characteristics
and
outcomes
of
CHS
patients
in
Japan
.
Questionnaires
were
sent
to
287
institutions
to
collect
data
regarding
CHS
patients
diagnosed
between
2000
and
2010
,
including
results
of
lysosomal
trafficking
regulator
(
LYST
)
gene
analysis
.
Cytotoxicity
and
degranulation
activity
of
cytotoxic
T
lymphocytes
were
analyzed
in
available
patient
samples
.
A
total
of
15
patients
diagnosed
with
CHS
were
eligible
for
enrollment
in
this
study
.
Of
these
,
10
(
67
%
)
had
recurrent
bacterial
infections
,
five
(
33
%
)
developed
life-threatening
hemophagocytic
lymphohistiocytosis
(
HLH
)
,
and
one
patient
had
complicated
malignant
lymphoma
.
Hematopoietic
stem
cell
transplantation
(
HSCT
)
was
performed
for
six
patients
including
three
with
HLH
,
and
10
of
the
enrolled
patients
have
survived
at
the
time
of
this
writing
.
LYST
analysis
was
performed
for
10
patients
;
seven
different
mutations
were
detected
in
seven
patients
,
whereas
no
mutation
was
identified
in
three
patients
.
Cytotoxicity
and
degranulation
activity
were
impaired
in
patients
with
and
without
LYST
mutation
.
R
esults
of
this
survey
indicate
that
one
or
two
patients
with
CHS
were
newly
diagnosed
each
year
in
Japan
.
The
incidence
of
HLH
was
not
as
high
as
expected
.
Mutations
of
genes
other
than
LYST
were
suspected
in
some
cases
.
We
conclude
that
determining
indication
for
HSCT
for
CHS
patients
should
be
based
on
genetic
and
cytotoxic
analysis
.
Diseases
Validation
Diseases presenting
"neurological dysfunction"
symptom
homocystinuria without methylmalonic aciduria
oculocutaneous albinism
triple a syndrome
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