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Primary immune deficiencies with aberrant IgE production.
[omenn syndrome]
IgE
antibodies
play
a
central
role
in
the
pathogenesis
of
atopic
diseases
and
in
host
immunity
against
parasitic
infections
.
IgE
has
potent
activities
on
mast
cells
and
basophils
.
IgE
class
switching
is
a
very
tightly
controlled
process
,
and
serum
IgE
levels
are
very
low
compared
with
other
immunoglobulin
isotypes
.
Transcription
factors
that
activate
or
inhibit
the
IgE
gene
promoter
,
as
well
as
T
(
H
)
1
and
T
(
H
)
2
cytokines
are
important
in
the
regulation
of
IgE
levels
.
Hyper-
IgE
syndrome
;
Wiskott-
Aldrich
syndrome
;
immunodysregulation
,
polyendocrinopathy
,
enteropathy
,
X-
linked
(
IPEX
)
;
Omenn
syndrome
;
and
atypical
complete
DiGeorge
syndrome
are
primary
immune
deficiencies
that
are
associated
with
elevated
serum
IgE
levels
.
Increased
IgE
levels
in
IPEX
,
Wiskott-
Aldrich
syndrome
and
Omenn
syndrome
are
likely
related
to
increased
T
(
H
)
2
cytokine
production
caused
by
decreased
a
number
or
function
of
CD
4
(
+
)
CD
2
5
(
+
)
forkhead
box
protein
P
3
(
+
)
regulatory
T
cells
.
The
link
between
signal
transducer
and
activator
of
transcription
3
mutations
and
elevated
serum
IgE
levels
in
hyper-
IgE
syndrome
is
unclear
.
Insight
into
IgE
regulation
provided
by
the
study
of
primary
immune
deficiencies
with
elevated
IgE
has
important
implications
for
allergic
diseases
.
Diseases
Validation
Diseases presenting
"and serum ige levels are very low compared with other immunoglobulin isotypes"
symptom
omenn syndrome
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