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
"immunodeficiency"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
cushing syndrome
dracunculiasis
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
kabuki syndrome
legionellosis
malignant atrophic papulosis
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
primary hyperoxaluria type 1
pyomyositis
severe combined immunodeficiency
sneddon syndrome
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated