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Reprint of "The clinical impact of deficiency in DNA non-homologous end-joining".
[severe combined immunodeficiency]
DNA
non-homologous
end-joining
(
NHEJ
)
is
the
major
DNA
double
strand
break
(
DSB
)
repair
pathway
in
mammalian
cells
.
Defects
in
NHEJ
proteins
confer
marked
radiosensitivity
in
cell
lines
and
mice
models
,
since
radiation
potently
induces
DSBs
.
The
process
of
V
(
D
)
J
recombination
functions
during
the
development
of
the
immune
response
,
and
involves
the
introduction
and
rejoining
of
programmed
DSBs
to
generate
an
array
of
diverse
T
and
B
cells
.
NHEJ
rejoins
these
programmed
DSBs
.
Consequently
,
NHEJ
deficiency
confers
(
severe
)
combined
immunodeficiency
-
(
S
)
CID
-
due
to
a
failure
to
carry
out
V
(
D
)
J
recombination
efficiently
.
NHEJ
also
functions
in
class
switch
recombination
,
another
step
enhancing
T
and
B
cell
diversity
.
Prompted
by
these
findings
,
a
search
for
radiosensitivity
amongst
(
S
)
CID
patients
revealed
a
radiosensitive
sub-class
,
defined
as
RS-
SCID
.
Mutations
in
NHEJ
genes
,
defining
human
syndromes
deficient
in
DNA
ligase
IV
(
LIG
4
Syndrome
)
,
XLF-Cernunnos
,
Artemis
or
DNA-PKcs
,
have
been
identified
in
such
patients
.
Mutations
in
XRCC
4
or
Ku
70
,
80
in
patients
have
not
been
identified
.
RS-
SCID
patients
frequently
display
additional
characteristics
including
microcephaly
,
dysmorphic
facial
features
and
growth
delay
.
Here
,
we
overview
the
clinical
spectrum
of
RS-
SCID
patients
and
discuss
our
current
understanding
of
the
underlying
biology
.
Diseases
Validation
Diseases presenting
"marked radiosensitivity in cell"
symptom
severe combined immunodeficiency
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