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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
"peripheral blood"
symptom
adrenomyeloneuropathy
allergic bronchopulmonary aspergillosis
aniridia
cohen syndrome
congenital toxoplasmosis
cutaneous mastocytosis
erdheim-chester disease
esophageal adenocarcinoma
esophageal squamous cell carcinoma
familial mediterranean fever
gm1 gangliosidosis
junctional epidermolysis bullosa
lamellar ichthyosis
monosomy 21
oligodontia
omenn syndrome
scrub typhus
severe combined immunodeficiency
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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