Rare Diseases Symptoms Automatic Extraction
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T-cell receptor diversity is selectively skewed in T-cell populations of patients with Wiskott-Aldrich syndrome.
[wiskott-aldrich syndrome]
Wiskott-
Aldrich
syndrome
(
WAS
)
is
a
severe
disorder
characterized
by
thrombocytopenia
,
eczema
,
immunodeficiency
,
and
increased
risk
of
autoimmune
disease
and
lymphoid
malignancies
.
The
immunodeficiency
caused
by
a
lack
of
WAS
protein
expression
has
been
mainly
attributed
to
defective
T
-
cell
functions
.
Whether
WAS
mutations
differentially
influence
the
T
-
cell
receptor
(
TCR
)
diversity
of
different
T
-
cell
subsets
is
unknown
.
We
aimed
to
identify
the
degree
and
pattern
of
skewing
in
the
variable
region
of
the
TCR
β-chain
(
Vβ
)
in
different
T
-
cell
subsets
from
patients
with
WAS
.
T
he
TCR
repertoire
diversity
in
total
peripheral
T
Â
cells
,
sorted
CD
4
(
+
)
and
CD
8
(
+
)
T
cells
,
and
CD
4
5
RA
(
+
)
(
CD
4
5
RA
(
+
)
CD
4
5
RO
(
-
)
cells
)
and
CD
4
5
RO
(
+
)
(
CD
4
5
RA
(
-
)
CD
4
5
RO
(
+
)
cells
)
CD
4
(
+
)
and
CD
8
(
+
)
T
cells
from
patients
with
WAS
and
age-matched
healthy
control
subjects
was
analyzed
and
compared
by
using
spectratyping
of
complementarity-determining
region
3
.
The
complementarity-determining
region
3
of
TCRβ
transcripts
in
CD
4
5
RA
(
+
)
CD
4
(
+
)
and
CD
4
5
RA
(
+
)
CD
8
(
+
)
T
cells
,
CD
4
5
RO
(
+
)
CD
4
(
+
)
T
cells
,
CD
8
(
+
)
terminally
differentiated
effector
memory
T
(
Temra
)
cells
,
and
naive
CD
8
(
+
)
T
cells
(
CD
8
(
+
)
CD
4
5
RO
(
-
)
CCR
7
(
+
)
cells
)
from
patients
and
control
subjects
were
analyzed
and
compared
by
using
high
-throughput
sequencing
.
The
TCR
repertoire
diversity
in
CD
4
5
RO
(
+
)
CD
4
(
+
)
T
cells
and
CD
8
(
+
)
Temra
cells
of
patients
with
WAS
was
significantly
skewed
in
comparison
with
that
seen
in
age-matched
control
subjects
.
Our
results
indicate
that
WAS
gene
mutations
selectively
influence
TCR
repertoire
development
or
expansion
in
CD
4
5
RO
(
+
)
(
memory
)
CD
4
(
+
)
T
cells
.
Diseases
Validation
Diseases presenting
"immunodeficiency"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
cushing syndrome
dracunculiasis
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
kabuki syndrome
legionellosis
malignant atrophic papulosis
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
primary hyperoxaluria type 1
pyomyositis
severe combined immunodeficiency
sneddon syndrome
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated
