Rare Diseases Symptoms Automatic Extraction
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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
"ataxia"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
cadasil
canavan disease
cholangiocarcinoma
cystinuria
dystrophic epidermolysis bullosa
familial mediterranean fever
gm1 gangliosidosis
homocystinuria without methylmalonic aciduria
lamellar ichthyosis
locked-in syndrome
omenn syndrome
phenylketonuria
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
triple a syndrome
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated