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Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States.
[omenn syndrome]
Newborn
screening
for
severe
combined
immunodeficiency
(
SCID
)
using
assays
to
detect
T
-
cell
receptor
excision
circles
(
TRECs
)
began
in
Wisconsin
in
2008
,
and
SCID
was
added
to
the
national
recommended
uniform
panel
for
newborn
screened
disorders
in
2010
.
Currently
23
states
,
the
District
of
Columbia
,
and
the
Navajo
Nation
conduct
population-
wide
newborn
screening
for
SCID
.
The
incidence
of
SCID
is
estimated
at
1
in
100
,
000
births
.
To
present
data
from
a
spectrum
of
SCID
newborn
screening
programs
,
establish
population-based
incidence
for
SCID
and
other
conditions
with
T
-
cell
lymphopenia
,
and
document
early
institution
of
effective
treatments
.
Epidemiological
and
retrospective
observational
study
.
Representatives
in
states
conducting
SCID
newborn
screening
were
invited
to
submit
their
SCID
screening
algorithms
,
test
performance
data
,
and
deidentified
clinical
and
laboratory
information
regarding
infants
screened
and
cases
with
nonnormal
results
.
Infants
born
from
the
start
of
each
participating
program
from
January
2008
through
the
most
recent
evaluable
date
prior
to
July
2013
were
included
.
Representatives
from
10
states
plus
the
Navajo
Area
Indian
Health
Service
contributed
data
from
3
,
030
,
083
newborns
screened
with
a
TREC
test
.
Infants
with
SCID
and
other
diagnoses
of
T
-
cell
lymphopenia
were
classified
.
Incidence
and
,
where
possible
,
etiologies
were
determined
.
Interventions
and
survival
were
tracked
.
Screening
detected
52
cases
of
typical
SCID
,
leaky
SCID
,
and
Omenn
syndrome
,
affecting
1
in
58
,
000
infants
(
95
%
CI
,
1
/
46
,
000
-
1
/
80
,
000
)
.
Survival
of
SCID
-affected
infants
through
their
diagnosis
and
immune
reconstitution
was
87
%
(
45
/
52
)
,
92
%
(
45
/
49
)
for
infants
who
received
transplantation
,
enzyme
replacement
,
and
/
or
gene
therapy
.
Additional
interventions
for
SCID
and
non-
SCID
T
-
cell
lymphopenia
included
immunoglobulin
infusions
,
preventive
antibiotics
,
and
avoidance
of
live
vaccines
.
Variations
in
definitions
and
follow-up
practices
influenced
the
rates
of
detection
of
non-
SCID
T
-
cell
lymphopenia
.
N
ewborn
screening
in
11
programs
in
the
United
States
identified
SCID
in
1
in
58
,
000
infants
,
with
high
survival
.
The
usefulness
of
detection
of
non-
SCID
T
-
cell
lymphopenias
by
the
same
screening
remains
to
be
determined
.
Diseases
Validation
Diseases presenting
"and document early institution of effective treatments"
symptom
omenn syndrome
severe combined immunodeficiency
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