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Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: results of the first 2 years.
[omenn syndrome]
Assay
of
T
-
cell
receptor
excision
circles
(
TRECs
)
in
dried
blood
spots
obtained
at
birth
permits
population-based
newborn
screening
(
NBS
)
for
severe
combined
immunodeficiency
(
SCID
)
.
We
sought
to
report
the
first
2
years
of
TREC
NBS
in
California
.
Since
August
2010
,
California
has
conducted
SCID
NBS
.
A
high
-throughput
TREC
quantitative
PCR
assay
with
DNA
isolated
from
routine
dried
blood
spots
was
developed
.
Samples
with
initial
low
TREC
numbers
had
repeat
DNA
isolation
with
quantitative
PCR
for
TRECs
and
a
genomic
control
,
and
immunophenotyping
was
performed
within
the
screening
program
for
infants
with
incomplete
or
abnormal
results
.
Outcomes
were
tracked
.
Of
993
,
724
infants
screened
,
50
(
1
/
19
,
900
[
0
.
005
%
]
)
had
significant
T
-
cell
lymphopenia
.
Fifteen
(
1
/
66
,
250
)
required
hematopoietic
cell
or
thymus
transplantation
or
gene
therapy
;
these
infants
had
typical
SCID
(
n
=
11
)
,
leaky
SCID
or
Omenn
syndrome
(
n
=
3
)
,
or
complete
DiGeorge
syndrome
(
n
=
1
)
.
Survival
to
date
in
this
group
is
93
%
.
Other
T
-
cell
lymphopenic
infants
had
variant
SCID
or
combined
immunodeficiency
(
n
=
6
)
,
genetic
syndromes
associated
with
T
-
cell
impairment
(
n
=
12
)
,
secondary
T
-
cell
lymphopenia
(
n
=
9
)
,
or
preterm
birth
(
n
=
8
)
.
All
T
-
cell
lymphopenic
infants
avoided
live
vaccines
and
received
appropriate
interventions
to
prevent
infections
.
TREC
test
specificity
was
excellent
:
only
0
.
08
%
of
infants
required
a
second
test
,
and
0
.
016
%
required
lymphocyte
phenotyping
by
using
flow
cytometry
.
TREC
NBS
in
California
has
achieved
early
diagnosis
of
SCID
and
other
conditions
with
T
-
cell
lymphopenia
,
facilitating
management
and
optimizing
outcomes
.
Furthermore
,
NBS
has
revealed
the
incidence
,
causes
,
and
follow-up
of
T
-
cell
lymphopenia
in
a
large
diverse
population
.
Diseases
Validation
Diseases presenting
"lymphopenia"
symptom
22q11.2 deletion syndrome
hirschsprung disease
hodgkin lymphoma, classical
omenn syndrome
severe combined immunodeficiency
waldenström macroglobulinemia
wiskott-aldrich syndrome
This symptom has already been validated