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Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.
[omenn syndrome]
Hypomorphic
mutations
in
genes
associated
with
severe
combined
immunodeficiency
(
SCID
)
or
Omenn
syndrome
can
also
cause
milder
immunodeficiencies
.
We
report
10
new
patients
with
such
"
atypical
"
SCID
and
summarize
63
patients
from
the
literature
.
The
patient
groups
with
T
(
low
)
B
(
low
)
(
n
=
28
)
,
T
(
low
)
B
(
+
)
(
n
=
16
)
and
ADA
(
n
=
29
)
SCID
variants
had
similar
infection
profiles
but
differed
in
the
frequency
of
immune
dysregulation
,
which
was
observed
predominantly
in
patients
with
recombination
defects
.
Most
immunological
parameters
were
remarkably
similar
in
the
three
groups
.
Of
note
,
19
/
68
patients
with
"
atypical
"
SCID
had
normal
T
cell
counts
,
48
/
68
had
normal
IgG
and
23
/
46
had
at
least
one
normal
specific
antibody
titer
.
Elevated
IgE
was
a
characteristic
feature
of
ADA
deficiency
.
This
overview
characterizes
"
atypical
"
SCID
as
a
distinct
disease
with
immune
dysregulation
in
addition
to
infection
susceptibility
.
Lymphopenia
,
reduced
naïve
T
cells
and
elevated
IgE
are
suggestive
,
but
not
consistent
features
of
the
disease
.
Diseases
Validation
Diseases presenting
"which was observed predominantly in patients with recombination defects"
symptom
omenn syndrome
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