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Omenn syndrome does not live by V(D)J recombination alone.
[omenn syndrome]
During
the
past
decade
,
easy
access
to
sequence
analyses
has
allowed
us
to
increase
our
understanding
of
the
pathogenesis
of
severe
combined
immunodeficiencies
.
Here
,
we
describe
the
expanding
clinical
and
immunological
spectrum
associated
with
Omenn
syndrome
phenotype
.
In
particular
,
we
review
the
cellular
and
molecular
mechanisms
involved
in
the
pathophysiology
of
'
classical
'
Omenn
syndrome
due
to
the
recombination
activating
gene
(
RAG
)
defects
and
of
a
new
subgroup
of
Omenn-like
disorders
.
Different
types
of
mutations
are
associated
with
the
Omenn
phenotype
characterized
by
skin
erythroderma
,
oligoclonal-activated
T
cells
and
elevated
IgE
in
the
absence
of
circulating
B
cells
.
Extensive
studies
conducted
over
the
last
few
years
have
allowed
the
definition
of
the
'
classical
form
'
of
Omenn
syndrome
due
to
hypomorphic
defects
in
genes
involved
in
V
(
D
)
J
recombination
,
mainly
RAG
genes
,
and
'
Omenn-like
'
features
associated
with
mutations
in
genes
involved
in
the
maturation
steps
of
lymphoid
cells
other
than
V
(
D
)
J
recombination
.
Moreover
,
an
increasing
number
of
diseases
other
than
those
due
to
V
(
D
)
J
recombination
defects
develop
Omenn
signs
.
Impaired
but
not
abolished
V
(
D
)
J
recombination
process
leads
to
the
generation
of
a
few
T
cells
which
expand
in
the
periphery
,
infiltrate
target
organs
such
as
skin
and
gut
,
resulting
in
severe
erythroderma
and
colitis
,
both
typical
signs
of
Omenn
syndrome
.
Extensive
molecular
studies
now
demonstrate
that
genes
other
than
V
(
D
)
J
molecules
have
a
role
in
the
pathogenesis
of
this
disease
,
supporting
the
evidence
that
'
Omenn
'
defines
an
inflammatory
condition
associated
with
various
genetic
defects
.
Diseases
Validation
Diseases presenting
"hypomorphic defects in genes involved in v"
symptom
omenn syndrome
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