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Clinical and immunophenotypic features of atypical complete DiGeorge syndrome.
[omenn syndrome]
DiGeorge
syndrome
is
a
congenital
malformation
characterized
by
variable
defects
of
the
thymus
,
heart
and
parathyroid
glands
.
Athymic
patients
are
classified
as
exhibiting
complete
DiGeorge
syndrome
.
Some
of
these
patients
may
also
exhibit
oligoclonal
T
-
cell
expansion
,
generalized
rash
and
lymphadenopathy
at
some
point
after
birth
.
This
rare
condition
is
known
as
atypical
complete
DiGeorge
syndrome
,
resembles
Omenn
syndrome
,
and
has
not
been
fully
characterized
.
The
clinical
and
immunophenotypic
features
of
atypical
complete
DiGeorge
syndrome
were
assessed
in
two
affected
Japanese
infants
.
T
-
cell
receptor
(
TCR
)
Vβ
repertoire
was
analyzed
on
flow
cytometry
and
complementarity-determining
region
3
spectratyping
.
Both
patients
had
no
detectable
thymus
tissue
and
profound
T
-
cell
lymphopenia
soon
after
birth
.
Progressive
increase
of
activated
T
cells
,
however
,
as
well
as
eosinophilia
,
high
serum
IgE
level
,
generalized
rash
,
and
lymphadenopathy
were
observed
during
early
infancy
.
A
highly
restricted
TCR
Vβ
repertoire
was
demonstrated
both
in
CD
4
(
+
)
and
CD
8
(
+
)
T
cells
.
T
he
Omenn
syndrome
-like
manifestations
might
be
associated
with
the
oligoclonal
proliferation
of
activated
T
cells
.
Analysis
of
the
immunophenotype
and
TCR
Vβ
repertoire
is
helpful
to
establish
the
early
diagnosis
of
atypical
complete
DiGeorge
syndrome
.
Diseases
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Diseases presenting
"tcr vβ repertoire is helpful to establish the early diagnosis of atypical complete digeorge syndrome"
symptom
omenn syndrome
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