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Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience.
[omenn syndrome]
The
approach
to
the
diagnosis
of
severe
combined
immunodeficiency
disease
(
SCID
)
and
related
disorders
varies
among
institutions
and
countries
.
The
Primary
Immune
Deficiency
Treatment
Consortium
attempted
to
develop
a
uniform
set
of
criteria
for
diagnosing
SCID
and
related
disorders
and
has
evaluated
the
results
as
part
of
a
retrospective
study
of
SCID
in
North
America
.
Clinical
records
from
2000
through
2009
at
27
centers
in
North
America
were
collected
on
332
children
treated
with
hematopoietic
stem
cell
transplantation
(
HCT
)
,
enzyme
replacement
therapy
,
or
gene
therapy
for
SCID
and
related
disorders
.
Eligibility
for
inclusion
in
the
study
and
classification
into
disease
groups
were
established
by
using
set
criteria
and
applied
by
an
expert
review
group
.
Two
hundred
eighty-
five
(
86
%
)
of
the
patients
were
determined
to
be
eligible
,
and
47
(
14
%
)
were
not
eligible
.
Of
the
285
eligible
patients
,
84
%
were
classified
as
having
typical
SCID
;
13
%
were
classified
as
having
leaky
SCID
,
Omenn
syndrome
,
or
reticular
dysgenesis
;
and
3
%
had
a
history
of
enzyme
replacement
or
gene
therapy
.
Detection
of
a
genotype
predicting
an
SCID
phenotype
was
accepted
for
eligibility
.
Reasons
for
noneligibility
were
failure
to
demonstrate
either
impaired
lymphocyte
proliferation
or
maternal
T
-
cell
engraftment
.
Overall
(
n
=
332
)
rates
of
testing
were
as
follows
:
proliferation
to
PHA
,
77
%
;
maternal
engraftment
,
35
%
;
and
genotype
,
79
%
(
mutation
identified
in
62
%
)
.
Lack
of
complete
laboratory
evaluation
of
patients
before
HCT
presents
a
significant
barrier
to
definitive
diagnosis
of
SCID
and
related
disorders
and
prevented
inclusion
of
subjects
in
our
observational
HCT
study
.
This
lesson
is
critical
for
patient
care
,
as
well
as
the
design
of
future
prospective
treatment
studies
for
such
children
because
a
well-defined
and
consistent
study
population
is
important
for
precision
in
outcomes
analysis
.
Diseases
Validation
Diseases presenting
"maternal engraftment"
symptom
omenn syndrome
severe combined immunodeficiency
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