Rare Diseases Symptoms Automatic Extraction
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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
"immunodeficiency"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
cushing syndrome
dracunculiasis
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
kabuki syndrome
legionellosis
malignant atrophic papulosis
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
primary hyperoxaluria type 1
pyomyositis
severe combined immunodeficiency
sneddon syndrome
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated