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[A first pilot study on the neonatal screening of primary immunodeficiencies in Spain: TRECS and KRECS identify severe T- and B-cell lymphopenia.]
[severe combined immunodeficiency]
Early
diagnosis
of
primary
immunodeficiency
such
as
severe
combined
immunodeficiency
(
SCID
)
and
X-
linked
agammaglobulinemia
(
XLA
)
improves
outcome
of
affected
infants
/
children
.
The
measurement
of
T
-
cell
receptor
excision
circles
(
TRECS
)
and
kappa-deleting
recombination
excision
circles
(
KRECS
)
can
identify
neonates
with
severe
T
or
B-
cell
lymphopenia
.
To
determine
TRECS
and
KRECS
levels
from
prospectively
collected
dried
blood
spot
samples
(
DBS
)
and
to
correctly
identify
severe
T
and
B-
cell
lymphopenia
.
Determination
of
TRECS
and
KRECS
by
multiplex
PCR
from
neonates
born
in
two
tertiary
hospitals
in
Seville
between
February
2014
and
May
2014
.
PCR
cut-off
levels
:
TRECS
<
15
copies
/
μl
,
KRECS
<
10
copies
/
μl
,
ACTB
(
β-actin
)
>
1000
copies
/
μl
.
Internal
(
XLA
,
ataxia
telangiectasia
)
and
external
(
SCID
)
controls
were
included
.
A
total
of
1068
out
of
1088
neonates
(
mean
GA
39
weeks
(
38
-
40
)
and
BW
3238
g
(
2930
-
3520
)
were
enrolled
in
the
study
.
Mean
(
median
,
min
/
max
)
copies
/
μl
,
were
as
follows
:
TRECS
145
(
132
,
8
/
503
)
,
KRECS
82
(
71
,
7
/
381
)
,
and
ACTB
2838
(
2763
,
284
/
7710
)
.
Twenty
samples
(
1
.
87
%
)
were
insufficient
.
Resampling
was
needed
in
one
neonate
(
0
.
09
%
)
,
subsequently
giving
a
normal
result
.
When
using
lower
cut-offs
(
TRECS
<
8
and
KRECS
<
4
copies
/
μl
)
,
all
the
samples
tested
were
normal
and
the
internal
and
external
controls
were
correctly
identified
.
This
is
the
first
prospective
pilot
study
in
Spain
using
TRECS
/
KRECS
/
ACTB
-assay
,
describing
the
experience
and
applicability
of
this
method
to
identify
severe
lymphopenias
.
The
ideal
cut-off
remains
to
be
established
in
our
population
.
Quality
of
sampling
,
storage
and
preparation
need
to
be
further
improved
.
Diseases
Validation
Diseases presenting
"early diagnosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
locked-in syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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