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Analysis of mutations and recombination activity in RAG-deficient patients.
[omenn syndrome]
Mutations
in
the
recombination
activating
genes
(
RAG
1
or
RAG
2
)
can
lead
to
a
variety
of
immunodeficiencies
.
Herein
,
we
report
5
cases
of
RAG
deficiency
from
5
families
:
3
of
Omenn
syndrome
,
1
of
severe
combined
immunodeficiency
,
and
1
of
combined
immunodeficiency
with
oligoclonal
TCRγδ
(
+
)
T
cells
,
autoimmunity
and
cytomegalovirus
infection
.
The
genetic
defects
were
heterogeneous
and
included
6
novel
RAG
mutations
.
All
missense
mutations
except
for
Met
443
I
le
in
RAG
2
were
located
in
active
core
regions
of
RAG
1
or
RAG
2
.
V
(
D
)
J
recombination
activity
of
each
mutant
was
variable
,
ranging
from
half
of
the
wild
type
activity
to
none
,
however
,
a
significant
decrease
in
average
recombination
activity
was
demonstrated
in
each
patient
.
The
reduced
recombination
activity
of
Met
443
I
le
in
RAG
2
may
suggest
a
crucial
role
of
the
non-core
region
of
RAG
2
in
V
(
D
)
J
recombination
.
These
findings
suggest
that
functional
evaluation
together
with
molecular
analysis
contributes
to
our
broader
understanding
of
RAG
deficiency
.
Diseases
Validation
Diseases presenting
"reduced recombination activity"
symptom
omenn syndrome
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