Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Our Team
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
"enteropathy"
symptom
22q11.2 deletion syndrome
inclusion body myositis
junctional epidermolysis bullosa
megacystis-microcolon-intestinal hypoperistalsis syndrome
omenn syndrome
wiskott-aldrich syndrome
This symptom has already been validated
