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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
.
Diseases
Validation
Diseases presenting
"early recognition"
symptom
22q11.2 deletion syndrome
cadasil
child syndrome
cowden syndrome
cushing syndrome
cystinuria
familial mediterranean fever
homocystinuria without methylmalonic aciduria
kindler syndrome
legionellosis
oligodontia
omenn syndrome
pyomyositis
thoracic outlet syndrome
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