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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
"impaired response"
symptom
omenn syndrome
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