Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"and mild immunodeficiency harbor distinct mutations in phospholipase cγ2"
symptom
sneddon syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom