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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
"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