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A random Abstract
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Detection of T lymphocytes with a second-site mutation in skin lesions of atypical X-linked severe combined immunodeficiency mimicking Omenn syndrome.
[omenn syndrome]
X-
linked
severe
combined
immunodeficiency
(
XSCID
)
is
caused
by
mutations
of
the
common
gamma
chain
(
gammac
)
and
usually
characterized
by
the
absence
of
T
and
natural
killer
(
NK
)
cells
.
Here
,
we
report
an
atypical
case
of
XSCID
presenting
with
autologous
T
and
NK
cells
and
Omenn
syndrome
-like
manifestations
.
The
patient
carried
a
splice-site
mutation
(
IVS
1
+
5
G
>
A
)
that
caused
most
of
the
mRNA
to
be
incorrectly
spliced
but
produced
normally
spliced
transcript
in
lesser
amount
,
leading
to
residual
gammac
expression
and
development
of
T
and
NK
cells
.
The
skin
biopsy
specimen
showed
massive
infiltration
of
revertant
T
cells
.
Those
T
cells
were
found
to
have
a
second
-site
mutation
and
result
in
complete
restoration
of
correct
splicing
.
These
findings
suggest
that
the
clinical
spectrum
of
XSCID
is
quite
broad
and
includes
atypical
cases
mimicking
Omenn
syndrome
,
and
highlight
the
importance
of
revertant
mosaicism
as
a
possible
cause
for
variable
phenotypic
expression
.
Diseases
Validation
Diseases presenting
"absence of t"
symptom
omenn syndrome
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