Rare Diseases Symptoms Automatic Extraction
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Clinical and genetic heterogeneity in Omenn syndrome and severe combined immune deficiency.
[omenn syndrome]
OS
has
been
described
as
a
clinical
phenotype
in
infants
characterized
by
SCID
,
diffuse
erythroderma
,
and
other
distinct
features
.
The
pathogenesis
is
secondary
to
autologous
,
auto-reactive
T
cells
produced
as
rare
escapees
from
the
SCID
blockade
.
Mutations
in
either
the
RAG
1
or
RAG
2
gene
that
lead
to
partial
recombinase
activity
are
responsible
for
many
of
the
patients
with
these
clinical
features
.
We
report
on
two
patients
,
one
with
an
atypical
phenotype
of
OS
(
absence
of
rash
but
presence
of
other
typical
features
)
who
harbored
a
previously
undescribed
mutation
in
RAG
1
,
and
a
second
who
had
many
of
the
classic
features
of
OS
but
was
found
to
have
a
mutation
in
the
common
gamma
chain
(
gamma
(
c
)
)
cytokine
receptor
gene
.
These
cases
highlight
the
clinical
and
genetic
heterogeneity
of
OS
.
Diseases
Validation
Diseases presenting
"atypical phenotype"
symptom
cohen syndrome
cowden syndrome
fabry disease
kabuki syndrome
omenn syndrome
proteus syndrome
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