Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Immunodeficiencies with autoimmune consequences.
[omenn syndrome]
Far
from
being
mutually
exclusive
,
immunodeficiency
and
autoimmunity
may
occur
simultaneously
.
During
the
last
years
,
analysis
of
Autoimmune
Polyendocrinopathy--
Candidiasis--
Ectodermal
Dystrophy
(
APECED
)
and
Immunodysregulation--
Polyendocrinopathy--
Enteropathy
--
X-
linked
(
IPEX
)
,
two
rare
monogenic
forms
of
immunodeficiency
associated
with
autoimmunity
,
has
led
to
the
identification
of
Auto
Immune
Regulator
(
AIRE
)
and
Forkhead
Box
P
3
(
FOXP
3
)
,
essential
transcriptional
regulators
,
involved
in
central
tolerance
and
peripheral
immune
homeostasis
,
respectively
.
Characterization
of
the
molecular
and
cellular
mechanisms
involved
in
APECED
,
and
recognition
that
AIRE
expression
is
sustained
by
effective
thymopoiesis
,
has
recently
allowed
to
define
that
the
autoimmunity
of
Omenn
syndrome
,
a
combined
immunodeficiency
due
to
defects
of
V
(
D
)
J
recombination
,
also
results
from
defective
expression
of
AIRE
.
The
implications
of
identification
of
the
basis
of
autoimmunity
in
these
rare
forms
of
immunodeficiency
have
important
implications
for
a
better
understanding
of
more
common
autoimmune
disorders
,
and
for
development
of
novel
therapeutic
approaches
.
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
