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When less is more: primary immunodeficiency with an autoinflammatory kick.
[sneddon syndrome]
Next
-generation
sequencing
is
revolutionizing
the
molecular
taxonomy
of
human
disease
.
Recent
studies
of
patients
with
unexplained
autoinflammatory
disorders
reveal
germline
genetic
mutations
that
target
important
regulators
of
innate
immunity
.
Whole-exome
analyses
of
previously
undiagnosed
patients
have
catalyzed
the
recognition
of
two
new
disease
genes
.
First
,
a
phenotypic
spectrum
,
including
livedo
racemosa
,
fever
with
early
-onset
stroke
,
polyarteritis
nodosa
,
and
Sneddon
syndrome
,
is
caused
by
loss
-of-function
mutations
in
cat
eye
syndrome
chromosome
region
,
candidate
1
(
CECR
1
)
,
encoding
adenosine
deaminase
2
.
Adenosine
deaminase
2
is
a
secreted
protein
expressed
primarily
in
myeloid
cells
,
and
a
regulator
of
macrophage
differentiation
and
endothelial
development
.
Disease-associated
mutations
impair
anti-
inflammatory
M
2
macrophage
differentiation
.
Second
,
patients
presenting
with
cold-induced
urticaria
,
granulomatous
rash
,
autoantibodies
,
and
common
variable
immunodeficiency
,
or
with
blistering
skin
lesions
,
bronchiolitis
,
enterocolitis
,
ocular
inflammation
,
and
mild
immunodeficiency
harbor
distinct
mutations
in
phospholipase
Cγ
2
,
encoding
a
signaling
molecule
expressed
in
natural
killer
cells
,
mast
cells
,
and
B
lymphocytes
.
These
mutations
inhibit
the
function
of
a
phospholipase
Cγ
2
autoinhibitory
domain
,
causing
increased
or
constitutive
signaling
.
These
findings
underscore
the
power
of
next
-generation
sequencing
,
demonstrating
how
the
primary
deficiency
of
key
molecular
regulators
or
even
regulatory
motifs
may
lead
to
autoinflammation
,
and
suggesting
a
possible
role
for
cat
eye
syndrome
chromosome
region
,
candidate
1
and
phospholipase
Cγ
2
in
common
diseases
.
Diseases
Validation
Diseases presenting
"previously undiagnosed patients"
symptom
sneddon syndrome
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