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RAG-dependent primary immunodeficiencies.
[omenn syndrome]
Mutations
in
recombination
activating
genes
1
and
2
(
RAG
1
and
RAG
2
)
cause
a
spectrum
of
severe
immunodeficiencies
ranging
from
classical
T
cell-
B
cell-
severe
combined
immunodeficiency
(
T
(
-
)
B
(
-
)
SCID
)
and
Omenn
syndrome
(
OS
)
to
an
increasing
number
of
peculiar
cases
.
While
it
is
well
established
from
biochemical
data
that
the
specific
genetic
defect
in
either
of
the
RAG
genes
is
the
first
determinant
of
the
clinical
presentation
,
there
is
also
increasing
evidence
that
environmental
factors
play
an
important
role
and
can
lead
to
a
different
phenotypic
expression
of
a
given
genotype
.
However
,
a
better
understanding
of
the
mechanisms
by
which
the
molecular
defect
impinges
on
the
cellular
phenotype
of
OS
is
still
lacking
.
Ongoing
studies
in
knock-
in
mice
could
better
clarify
this
aspect
.
Diseases
Validation
Diseases presenting
"specific genetic defect"
symptom
omenn syndrome
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