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Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome.
[omenn syndrome]
Omenn
syndrome
is
a
variant
of
severe
combined
immunodeficiency
disease
,
which
most
prominently
presents
with
erythroderma
,
eosinophilia
,
and
susceptibility
to
various
pathogens
.
Mutations
in
the
nucleases
of
recombination
activating
genes
1
and
2
(
RAG
1
/
RAG
2
)
or
Artemis
were
found
in
some
,
but
not
all
,
patients
with
Omenn
syndrome
.
We
identified
2
patients
who
presented
with
clinical
features
consistent
with
Omenn
syndrome
but
had
no
mutations
in
RAG
or
Artemis
.
Both
patients
also
had
cartilage-
hair
hypoplasia
(
CHH
)
.
We
sought
to
define
the
molecular
basis
and
characterize
the
features
of
severe
combined
immunodeficiency
and
Omenn
syndrome
in
these
patients
.
We
have
studied
humoral
and
cellular
immunity
using
standard
assays
.
T
-
cell
repertoire
was
investigated
by
quantitating
Vbeta
families
.
The
RNase
mitochondrial
RNA
processing
(
RMRP
)
RNA
gene
was
sequenced
by
using
standard
techniques
.
Sequence
analysis
of
the
RMRP
RNA
gene
showed
that
each
patient
had
an
insertion-
duplication
on
one
allele
and
a
point
mutation
on
the
other
allele
.
These
point
mutations
were
novel
,
and
they
might
be
related
to
the
unusual
presentation
of
Omenn
syndrome
in
addition
to
CHH
in
these
patients
.
Indeed
,
analysis
of
the
thymus
showed
residual
mature
T
lymphocytes
.
This
leaky
thymus
might
be
responsible
for
the
skewed
release
of
some
T
-
cell
clones
into
the
circulation
,
which
might
trigger
the
phenotype
of
Omenn
syndrome
.
We
have
demonstrated
that
mutations
in
the
RMRP
RNA
gene
might
be
associated
with
Omenn
syndrome
.
This
discovery
will
aid
clinicians
in
the
early
recognition
and
treatment
of
CHH-associated
Omenn
syndrome
.