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Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells.
[omenn syndrome]
Omenn
syndrome
(
OS
)
is
characterized
by
a
peculiar
severe
T
-
cell
immune
deficiency
associated
with
autoimmunelike
manifestations
.
Dysregulations
of
the
central
and
peripheral
immune
tolerance
,
mediated
by
the
protein
autoimmune
regulator
(
AIRE
)
and
regulatory
T
cells
,
respectively
,
were
proposed
as
possible
mechanisms
of
this
aberrant
inflammatory
process
.
We
studied
mechanisms
of
central
and
peripheral
tolerance
in
patients
with
OS
and
also
examined
the
gene
expression
profile
associated
with
OS
features
.
T
-
cell
receptor
diversity
,
DNA
rearrangement
,
and
the
expression
of
AIRE
and
forkhead
box
P
3
mRNA
as
well
as
the
expression
of
regulatory
T
cells
in
cells
obtained
from
patients
with
OS
were
studied
.
Characterization
of
gene
expression
in
these
cells
was
carried
out
by
using
the
TaqMan
Low
-
Density
Array
.
T
ranscript
expression
of
peripheral
blood
AIRE
but
not
forkhead
box
P
3
was
reduced
in
patients
with
OS
.
The
expression
of
natural
killer
T
and
regulatory
T
cells
was
normal
,
although
the
latter
showed
an
abnormal
CD
4
-
negative
population
.
Patients
with
OS
have
oligoclonal
T
cells
with
limited
DNA
recombination
activity
,
including
the
presence
of
early
but
not
late
T
-
cell
maturation
events
,
regardless
of
the
genetic
defect
underlying
the
syndrome
.
The
transcriptional
profile
associated
with
OS
features
reveals
significant
changes
in
25
.
5
%
of
the
tested
genes
compared
with
normal
control
.
Our
findings
suggest
that
T
-
cell
oligoclonal
expansion
in
OS
emanates
from
an
incomplete
block
before
the
maturation
stage
of
negative
selection
,
which
may
explain
escape
of
autoreactive
T
cells
from
the
thymus
.
Dysregulated
genes
in
patients
with
OS
are
closely
involved
with
self-tolerance
and
autoimmunity
.
Diseases
Validation
Diseases presenting
"immune deficiency"
symptom
22q11.2 deletion syndrome
congenital diaphragmatic hernia
oculocutaneous albinism
omenn syndrome
pyomyositis
severe combined immunodeficiency
typhoid
wiskott-aldrich syndrome
This symptom has already been validated