Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.
[severe combined immunodeficiency]
Purine
nucleoside
phosphorylase
(
PNP
)
deficiency
is
a
rare
form
of
autosomal
recessive
combined
primary
immunodeficiency
caused
by
a
enzyme
defect
leading
to
the
accumulation
of
inosine
,
2
'
-
deoxy-inosine
(
dIno
)
,
guanosine
,
and
2
'
-
deoxy-guanosine
(
dGuo
)
in
all
cells
,
especially
lymphocytes
.
Treatments
are
available
and
curative
for
PNP
deficiency
,
but
their
efficacy
depends
on
the
early
approach
.
PNP
-
combined
immunodeficiency
complies
with
the
criteria
for
inclusion
in
a
newborn
screening
program
.
This
study
evaluate
whether
mass
spectrometry
can
identify
metabolite
abnormalities
in
dried
blood
spots
(
DBSs
)
from
affected
patients
,
with
the
final
goal
of
individuating
the
disease
at
birth
during
routine
newborn
screening
.
DBS
samples
from
9
patients
with
genetically
confirmed
PNP
-
combined
immunodeficiency
,
10
,
000
DBS
samples
from
healthy
newborns
,
and
240
DBSs
from
healthy
donors
of
different
age
ranges
were
examined
.
Inosine
,
dIno
,
guanosine
,
and
dGuo
were
tested
by
using
tandem
mass
spectrometry
(
TMS
)
.
T
-
cell
receptor
excision
circle
(
TREC
)
and
kappa-deleting
recombination
excision
circle
(
KREC
)
levels
were
evaluated
by
using
quantitative
RT-PCR
only
for
the
2
patients
(
patients
8
and
9
)
whose
neonatal
DBSs
were
available
.
Mean
levels
of
guanosine
,
inosine
,
dGuo
,
and
dIno
were
4
.
4
,
133
.
3
,
3
.
6
,
and
3
.
8
μmol
/
L
,
respectively
,
in
affected
patients
.
No
indeterminate
or
false-
positive
results
were
found
.
In
patient
8
TREC
levels
were
borderline
and
KREC
levels
were
abnormal
;
in
patient
9
TRECs
were
undetectable
,
whereas
KREC
levels
were
normal
.
TMS
is
a
valid
method
for
diagnosis
of
PNP
deficiency
on
DBSs
of
affected
patients
at
a
negligible
cost
.
TMS
identifies
newborns
with
PNP
deficiency
,
whereas
TREC
or
KREC
measurement
alone
can
fail
.
Diseases
Validation
Diseases presenting
"10"
symptom
congenital toxoplasmosis
cowden syndrome
pleomorphic liposarcoma
scrub typhus
severe combined immunodeficiency
von hippel-lindau disease
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom