Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Our Team
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
"immunodeficiency"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
cushing syndrome
dracunculiasis
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
kabuki syndrome
legionellosis
malignant atrophic papulosis
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
primary hyperoxaluria type 1
pyomyositis
severe combined immunodeficiency
sneddon syndrome
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated