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Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience.
[omenn syndrome]
We
retrospectively
analyzed
the
outcome
of
hematopoietic
stem
cell
transplantations
(
HSCT
)
performed
at
our
Center
between
1991
and
2002
in
11
unselected
patients
with
Omenn
syndrome
,
a
variant
of
severe
combined
immunodeficiency
.
The
patients
'
mean
age
at
the
time
of
the
first
HSCT
was
8
.
4
months
.
Two
patients
received
two
,
and
one
patient
three
,
HSCT
procedures
.
The
resulting
15
HSCT
derived
in
seven
cases
from
HLA-haploidentical
parents
,
in
four
patients
from
matched
unrelated
donors
,
in
three
cases
from
an
HLA
phenotypically
identical
related
donor
,
and
in
one
case
from
an
HLA
genotypically
identical
family
donor
.
Nine
out
of
11
patients
are
alive
and
immunoreconstituted
30
-
146
months
after
transplantation
.
At
the
time
of
the
most
recent
evaluation
,
all
of
the
nine
survivors
had
normal
T
-
cell
function
,
and
eight
of
them
had
developed
normal
antibody
production
.
This
study
demonstrates
an
overall
mortality
of
18
.
2
%
,
which
is
substantially
lower
than
previously
reported
.
Early
recognition
of
OS
,
rapid
initiation
of
adequate
supportive
treatment
and
HSCT
lead
to
improved
outcome
for
this
otherwise
fatal
disease
,
regardless
of
the
origin
and
matching
of
hematopoietic
stem
cells
.
Diseases
Validation
Diseases presenting
"early recognition"
symptom
22q11.2 deletion syndrome
cadasil
child syndrome
cowden syndrome
cushing syndrome
cystinuria
familial mediterranean fever
homocystinuria without methylmalonic aciduria
kindler syndrome
legionellosis
oligodontia
omenn syndrome
pyomyositis
thoracic outlet syndrome
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