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Defect of regulatory T cells in patients with Omenn syndrome.
[omenn syndrome]
Omenn
syndrome
(
OS
)
is
an
autosomal-recessive
disorder
characterized
by
severe
immunodeficiency
and
T
-
cell-mediated
autoimmunity
.
The
disease
is
caused
by
hypomorphic
mutations
in
recombination-activating
genes
that
hamper
the
process
of
Variable
(
V
)
Diversity
(
D
)
Joining
(
J
)
recombination
,
leading
to
the
generation
of
autoreactive
T
cells
.
We
have
previously
shown
that
in
OS
the
expression
of
autoimmune
regulator
,
a
key
factor
governing
central
tolerance
,
is
markedly
reduced
.
Here
,
we
have
addressed
the
role
of
peripheral
tolerance
in
the
disease
pathogenesis
.
We
have
analyzed
forkhead
box
protein
P
3
(
FOXP
3
)
expression
in
peripheral
blood
T
cells
of
4
patients
with
OS
and
in
lymphoid
organs
of
8
patients
with
OS
and
have
tested
the
suppressive
activity
of
sorted
CD
4
(
+
)
CD
2
5
(
high
)
peripheral
blood
T
cells
in
2
of
these
patients
.
We
have
observed
that
CD
4
(
+
)
CD
2
5
(
high
)
T
cells
isolated
ex
vivo
from
patients
with
OS
failed
to
suppress
proliferation
of
autologous
or
allogenic
CD
4
(
+
)
responder
T
cells
.
Moreover
,
despite
individual
variability
in
the
fraction
of
circulating
FOXP
3
(
+
)
CD
4
cells
in
patients
with
OS
,
the
immunohistochemical
analysis
of
FOXP
3
expression
in
lymph
nodes
and
thymus
of
patients
with
OS
demonstrated
a
severe
reduction
of
this
cell
subset
compared
with
control
tissues
.
Overall
,
these
results
suggest
a
defect
of
regulatory
T
cells
in
OS
leading
to
a
breakdown
of
peripheral
tolerance
,
which
may
actively
concur
to
the
development
of
autoimmune
manifestations
in
the
disease
.
