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A random Abstract
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Defining combined immunodeficiency.
[omenn syndrome]
Although
the
extreme
condition
of
typical
profound
T-
cell
dysfunction
(
TD
)
,
severe
combined
immunodeficiency
(
SCID
)
,
has
been
carefully
defined
,
we
are
currently
in
the
process
of
better
defining
less
typical
T
-
cell
deficiencies
,
which
tend
to
present
with
autologous
circulating
T
-
cell
combined
immunodeficiency
(
CID
)
.
Because
autologous
cells
might
interfere
with
the
outcome
of
bone
marrow
transplantation
,
protocols
usually
include
conditioning
regimens
.
Therefore
it
is
important
to
define
the
numbers
of
autologous
cells
usually
detected
in
patients
with
CID
versus
those
with
SCID
.
We
sought
to
determine
the
number
of
circulating
T
cells
in
patients
with
SCID
as
opposed
to
those
with
CID
,
to
study
their
function
,
and
to
evaluate
their
possible
detection
during
newborn
screening
using
T
-
cell
receptor
excision
circle
(
TREC
)
analysis
.
Numbers
of
circulating
CD
3
(
+
)
T
cells
(
as
determined
by
means
of
flow
cytometry
)
,
in
vitro
responses
to
PHA
,
and
TREC
levels
,
all
measured
at
presentation
,
were
compiled
from
the
research
charts
of
the
entire
cohort
of
patients
followed
prospectively
for
T
-
cell
immunodeficiency
at
the
Hospital
for
Sick
Children
.
Clinical
data
were
ascertained
retrospectively
from
the
patient
's
hospital
charts
.
One
hundred
three
patients
had
CD
3
(
+
)
determinations
,
and
80
of
them
had
a
genetic
diagnosis
.
All
patients
considered
to
have
typical
SCID
had
CD
3
(
+
)
T
-
cell
counts
of
fewer
than
500
cells
/
μL
.
Some
variability
was
observed
among
different
genotypes
.
In
vitro
responses
to
PHA
were
recorded
in
88
patients
,
of
whom
68
had
a
genetic
diagnosis
.
All
patients
with
low
CD
3
(
+
)
T
-
cell
numbers
(
<
500
cells
/
μL
)
also
had
markedly
decreased
responses
to
PHA
(
typical
SCIDs
)
.
However
,
responses
ranged
widely
in
the
groups
of
patients
with
TD
who
had
more
than
500
CD
3
(
+
)
autologous
circulating
T
cells
per
microliter
.
Although
patients
with
Omenn
syndrome
and
ζ
chain-associated
protein
,
70
kDa
(
ZAP
70
)
,
and
purine
nucleoside
phosphorylase
(
PNP
)
deficiencies
had
low
responses
,
patients
with
the
p
.
R
222
C
mutation
in
the
IL
-
2
receptor
γ
(
IL
2
RG
)
gene
as
well
as
IL
-
10
receptor
and
CD
40
ligand
deficiencies
had
normal
or
near-normal
mitogen
responses
.
Finally
,
51
patients
had
TREC
levels
measured
.
All
patients
with
typical
SCID
,
Omenn
syndrome
,
and
ZAP
70
deficiency
had
low
TREC
levels
.
In
contrast
,
patients
with
mutations
in
forkhead
box
protein
3
(
FOXP
3
)
,
CD
40
ligand
(
CD
4
0
L
)
,
and
IL
-
10
receptor
α
(
IL
10
RA
)
,
as
well
as
patients
with
the
p
.
R
222
C
mutation
in
the
IL
2
RG
gene
,
had
normal
TREC
levels
.
Patients
with
typical
SCID
can
be
defined
as
having
fewer
than
500
circulating
CD
3
(
+
)
T
cells
.
Most
patients
with
autologous
T
cells
still
have
profound
TD
,
as
defined
by
reduced
in
vitro
function
and
thymus
output
.
Some
patients
with
conditions
including
TD
have
normal
TREC
levels
and
will
therefore
not
be
detected
in
a
TREC-based
newborn
screening
program
.
Diseases
Validation
Diseases presenting
"p.r222c mutation"
symptom
omenn syndrome
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