Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Skin infiltration of CD56(bright) CD16(-) natural killer cells in a case of X-SCID with Omenn syndrome-like manifestations.
[omenn syndrome]
We
observed
a
patient
with
X-
linked
severe
combined
immunodeficiency
(
X-
SCID
)
with
Omenn
syndrome
-like
manifestations
.
X-
linked
inheritance
,
absence
of
CD
132
expression
and
impaired
response
to
interleukin-
2
(
IL
-
2
)
indicated
that
the
case
is
typical
of
X-
SCID
due
to
gamma
(
c
)
defect
.
However
,
this
case
was
unusual
in
that
circulating
natural
killer
(
NK
)
cells
were
increased
and
nearly
half
of
these
NK
cells
exhibited
the
CD
5
6
(
bright
)
CD
16
(
-
)
phenotype
.
A
missense
mutation
was
found
within
exon
5
of
the
IL
2
RG
gene
.
The
identical
mutation
was
detected
within
NK
,
CD
4
(
+
)
T
and
B
cells
.
Engraftment
of
maternally
derived
NK
cells
or
gene
reversion
was
ruled
out
.
The
erythroderma
-like
skin
lesion
was
characterized
by
infiltration
of
the
dermis
by
CD
5
6
(
bright
)
NK
cells
admixed
with
CD
1
a
(
+
)
dendritic
cells
(
DC
)
.
Expression
of
mRNA
for
inflammatory
cytokines
was
significantly
enhanced
within
the
skin
.
This
may
be
the
first
human
case
to
demonstrate
that
close
cell-
to
-cell
contact
between
DC
and
NK
cells
provides
an
effective
alternative
pathway
for
NK
cell
differentiation
/
activation
in
vivo
.
Diseases
Validation
Diseases presenting
"inflammatory cytokines"
symptom
alpha-thalassemia
congenital toxoplasmosis
cystinuria
esophageal adenocarcinoma
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
krabbe disease
oculocutaneous albinism
omenn syndrome
primary effusion lymphoma
severe combined immunodeficiency
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom