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A random Abstract
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The hereditary autoinflammatory disorders uncovered.
[familial mediterranean fever]
There
is
a
thriving
interest
in
the
field
of
hereditary
autoinflammatory
disorders
(
HAID
)
,
a
gamut
of
heterogeneous
conditions
deriving
from
an
aberrant
orchestration
of
innate
immunity
,
unified
by
the
common
feature
of
seemingly
unprovoked
inflammation
,
which
might
be
systemic
or
occur
in
localized
niches
of
the
organism
.
Recurrent
fever
and
episodic
inflammation
in
the
joints
,
serosal
membranes
,
skin
,
gut
,
and
other
organs
are
the
common
denominator
of
HAID
.
Mutations
in
the
inflammasome-related
genes
have
been
associated
with
different
HAID
,
showing
the
intimate
link
existing
between
interleukin-
1
(
IL
-
1
)
-
structured
inflammasome
and
their
pathogenesis
.
Differential
diagnosis
of
HAID
can
be
challenging
,
as
there
are
no
universally
accepted
diagnostic
protocols
,
and
near
half
of
patients
may
remain
without
any
genetic
abnormality
identified
.
The
use
of
IL
-
1
-
antagonists
has
been
associated
with
beneficial
effects
in
a
large
number
of
HAID
associated
with
excessive
IL
-
1
signalling
,
such
as
cryopyrin-associated
periodic
syndromes
,
familial
Mediterranean
fever
,
and
deficiency
of
IL
-
1
receptor
antagonist
.
This
review
will
discuss
about
the
key-clues
of
HAID
which
might
guide
for
an
early
recognition
and
drive
decisions
for
treatment
.
Diseases
Validation
Diseases presenting
"common feature"
symptom
22q11.2 deletion syndrome
alexander disease
cadasil
familial mediterranean fever
hereditary cerebral hemorrhage with amyloidosis
kabuki syndrome
pendred syndrome
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