Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Cutaneous manifestations of primary immunodeficiency.
[omenn syndrome]
To
show
that
skin
symptoms
help
in
the
recognition
of
primary
immunodeficiencies
(
PIDs
)
.
To
analyze
whether
recent
molecular
data
help
in
understanding
genotype
/
phenotype
relations
.
Erythroderma
in
Omenn
syndrome
may
be
caused
by
either
mutations
in
genes
associated
with
severe
combined
immunodeficiency
(
SCID
)
in
which
the
generation
of
some
T
cells
is
possible
,
which
results
in
potentially
autoreactive
lymphoid
clones
,
or
by
selective
proliferation
of
revertant
CD
8
T
cells
in
the
skin
due
to
clonal
expansion
in
response
to
infections
or
autoantigens
.
The
newborn
eczematous
eruption
,
which
occurs
mainly
in
the
signal-transducer-and-activator-of-transcription-
3
(
STAT
3
)
variant
,
helps
to
differentiate
STAT
3
from
Dedicator
of
Cytokinesis
8
-
related
Hyper-
IgE-syndrome
(
HIES
)
.
Impaired
T
helper
17
cell
(
TH
17
)
immunity
[
HIES
and
defects
of
autoimmune
regulator
element
(
AIRE
)
,
STAT-
1
,
and
interleukin
17
receptor
(
IL
17
(
R
)
)
]
may
give
rise
to
localized
chronic
mucocutaneous
candidiasis
,
whereas
a
defective
innate
immune
system
predisposes
to
systemic
candidiasis
[
congenital
neutropenia
,
neutrophil
dysfunction
,
and
caspase
recruitment
domain
9
(
CARD
9
)
deficiency
]
.
Noninfectious
granulomas
may
be
the
presenting
symptom
in
innate
immunity
defects
[
such
as
chronic
granulomatous
disease
(
CGD
)
or
in
predominantly
humoral
immunodeficiencies
such
as
common
variable
immunodeficiency
]
,
as
well
as
ataxia
teleangiectasia
or
rare
recombination-activating
gene
-
deficient
cases
.
The
skin
is
important
in
the
diagnosis
of
PIDs
.
In
particular
eczematous
lesions
,
erythroderma
,
noninfectious
granuloma
,
and
microbial
manifestations
may
help
to
direct
further
diagnostic
laboratory
analysis
.
Diseases
Validation
Diseases presenting
"deficiency"
symptom
aromatase deficiency
canavan disease
congenital adrenal hyperplasia
homocystinuria without methylmalonic aciduria
omenn syndrome
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