Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
RAG1 reversion mosaicism in a patient with omenn syndrome.
[omenn syndrome]
To
identify
mechanisms
of
disease
in
a
child
born
to
consanguineous
parents
,
who
presented
with
Omenn
syndrome
(
OS
)
and
was
found
to
carry
a
heterozygous
RAG
1
mutation
in
peripheral
blood
DNA
.
Mutation
analysis
was
performed
on
whole
blood
and
buccal
swab
DNA
.
Recombination
activity
of
the
mutant
RAG
1
protein
and
diversity
of
T
cell
repertoire
were
tested
.
Apparent
heterozygosity
for
a
novel
,
functionally
null
RAG
1
mutation
in
peripheral
blood
DNA
from
a
patient
with
OS
was
shown
to
be
secondary
to
true
somatic
reversion
.
Analysis
of
T
cell
repertoire
demonstrated
expression
of
various
TCRBV
families
,
but
an
overall
restricted
pattern
.
This
is
the
first
case
of
true
somatic
reversion
of
a
RAG
1
mutation
in
a
patient
with
OS
.
The
reversion
event
likely
occurred
at
a
stage
where
only
a
limited
pool
of
T
cell
progenitors
capable
of
performing
V
(
D
)
J
recombination
could
be
generated
.
This
work
emphasizes
the
importance
of
performing
functional
studies
to
investigate
the
significance
of
novel
genetic
variants
,
and
to
consider
somatic
reversion
as
a
possible
disease
modifier
in
SCID
.
Diseases
Validation
Diseases presenting
"overall restricted pattern"
symptom
omenn syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom