Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Hematopoietic stem cell transplantation for severe combined immunodeficiency.
[omenn syndrome]
Severe
combined
immunodeficiency
(
SCID
)
is
a
heterogeneous
group
of
congenital
diseases
characterized
by
their
presentation
with
life
threatening
infections
in
the
first
months
of
life
.
The
clinical
presentation
and
the
therapeutic
outcome
is
influenced
by
multiple
factors
:
the
genetic
defect
,
infectious
complications
,
the
presence
of
maternal
T
cells
the
development
of
Omenn
syndrome
,
as
well
as
non-immunological
signs
and
symptoms
of
the
disease
.
Hematopoietic
stem
cell
transplantation
(
HSCT
)
to
date
is
the
only
established
curative
option
and
allows
long
-term
cure
of
the
disease
.
Therapeutic
objectives
of
HSCT
in
SCID
clearly
differ
from
those
in
malignant
or
hematological
disease
.
Disease
specific
aspects
and
their
influence
on
the
therapeutic
strategy
in
SCID
will
be
discussed
in
this
review
.
Diseases
Validation
Diseases presenting
"first months"
symptom
alexander disease
gm1 gangliosidosis
harlequin ichthyosis
hirschsprung disease
homocystinuria without methylmalonic aciduria
kindler syndrome
lamellar ichthyosis
oligodontia
omenn syndrome
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