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Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments.
[wiskott-aldrich syndrome]
Wiskott-
Aldrich
syndrome
(
WAS
)
is
a
rare
X-
linked
primary
immunodeficiency
disorder
characterized
by
the
triad
of
eczema
,
thrombocytopenia
,
and
severe
and
often
recurrent
infections
.
Despite
the
rarity
of
this
disorder
,
our
understanding
of
the
molecular
and
cellular
pathogenesis
of
WAS
has
continued
to
increase
.
Advances
in
the
use
of
diagnostic
tools
,
the
provision
of
supportive
care
,
and
improvements
in
allogeneic
hematopoietic
stem
cell
transplantation
have
significantly
reduced
the
morbidity
and
mortality
associated
with
this
disorder
.
Exciting
advancements
in
the
care
of
patients
with
WAS
have
also
occurred
,
including
the
successful
application
of
autologous
gene
-modified
hematopoietic
stem
cell
transplantation
.
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