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Gene therapy for wiskott-Aldrich syndrome.
[wiskott-aldrich syndrome]
The
Wiskott-
Aldrich
Syndrome
(
WAS
)
is
a
monogenic
X-
linked
primary
immunodeficiency
characterised
also
by
thrombocytopenia
,
eczema
,
and
a
high
susceptibility
to
develop
tumours
and
autoimmunity
.
WAS
patients
have
a
severely
reduced
life
expectancy
,
unless
they
undergo
a
successful
HLA-matched
haematopoietic
stem
cell
(
HSC
)
transplantation
.
However
,
several
WAS
patients
lack
a
compatible
donor
and
complications
,
such
as
autoimmunity
,
can
arise
in
a
significant
fraction
of
HSC
transplanted
patients
.
Administration
of
WAS
gene
-corrected
autologous
HSC
represents
an
alternative
therapeutic
approach
,
potentially
applicable
to
all
WAS
patients
.
To
this
aim
,
several
gene
therapy
approaches
for
WAS
using
initially
γ-retroviral
vectors
(
RVs
)
and
subsequently
HIV-based
lentiviral
vectors
(
LVs
)
have
been
developed
.
In
the
present
review
,
we
will
first
describe
the
results
of
the
preclinical
studies
conducted
in
the
murine
model
of
WAS
and
then
discuss
the
outcome
of
different
phase
I
/
II
clinical
trials
using
RV
or
LV-
transduced
HSC
.
Both
gene
therapy
approaches
led
to
restored
WASP
expression
,
correction
of
functional
defects
and
clinical
improvement
.
While
RV-mediated
gene
therapy
was
associated
with
a
high
occurrence
of
leukaemia
,
results
obtained
in
the
first
patients
treated
with
LV-based
HSC
gene
therapy
indicate
a
safer
risk-benefit
profile
.
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