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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
"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