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Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome.
[omenn syndrome]
Thymocytes
and
thymic
epithelial
cell
(
TEC
)
cross-talk
is
crucial
to
preserve
thymic
architecture
and
function
,
including
maturation
of
TECs
and
dendritic
cells
,
and
induction
of
mechanisms
of
central
tolerance
.
We
have
analyzed
thymic
maturation
and
organization
in
9
infants
with
various
genetic
defects
leading
to
complete
or
partial
block
in
T
-
cell
development
.
Profound
abnormalities
of
TEC
differentiation
(
with
lack
of
AIRE
expression
)
and
severe
reduction
of
thymic
dendritic
cells
were
identified
in
patients
with
T
-
negative
severe
combined
immunodeficiency
,
reticular
dysgenesis
,
and
Omenn
syndrome
.
The
latter
also
showed
virtual
absence
of
thymic
Foxp
3
(
+
)
T
cells
.
In
contrast
,
an
IL
2
RG
-R
222
C
hypomorphic
mutation
permissive
for
T
-
cell
development
allowed
for
TEC
maturation
,
AIRE
expression
,
and
Foxp
3
(
+
)
T
cells
.
Our
data
provide
evidence
that
severe
defects
of
thymopoiesis
impinge
on
TEC
homeostasis
and
may
affect
deletional
and
nondeletional
mechanisms
of
central
tolerance
,
thus
favoring
immune
dysreactive
manifestations
,
as
in
Omenn
syndrome
.
Diseases
Validation
Diseases presenting
"analyzed thymic maturation and organization in 9 infants"
symptom
omenn syndrome
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