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Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency.
[omenn syndrome]
One
of
the
severe
combined
immunodeficiencies
(
SCIDs
)
,
which
is
caused
by
a
genetic
defect
in
the
signal
transduction
pathways
involved
in
T
-
cell
activation
,
is
the
ZAP
70
deficiency
.
Mutations
in
ZAP
70
lead
to
both
abnormal
thymic
development
and
defective
T
-
cell
receptor
(
TCR
)
signaling
of
peripheral
T
-
cells
.
In
contrast
to
the
lymphopenia
in
most
SCID
patients
,
ZAP
70
-
deficient
patients
have
lymphocytosis
,
despite
the
selective
absence
of
CD
8
+
T
-
cells
.
The
clinical
presentation
is
usually
before
2
years
of
age
with
typical
findings
of
SCID
.
Here
,
we
present
three
new
ZAP
70
-
deficient
patients
who
vary
in
their
clinical
presentation
.
One
of
the
ZAP
70
-
deficient
patients
presented
as
a
classical
SCID
,
the
second
patient
presented
as
a
healthy
looking
wheezy
infant
,
whereas
the
third
patient
came
to
clinical
attention
for
the
eczematous
skin
lesions
simulating
atopic
dermatitis
with
eosinophilia
and
elevated
immunoglobulin
E
(
IgE
)
,
similar
to
the
Omenn
syndrome
.
This
study
illustrates
that
awareness
of
the
clinical
heterogeneity
of
ZAP
70
deficiency
is
of
utmost
importance
for
making
a
fast
and
accurate
diagnosis
,
which
will
contribute
to
the
improvement
of
the
adequate
treatment
of
this
severe
immunodeficiency
.
Diseases
Validation
Diseases presenting
"attention for the eczematous skin lesions"
symptom
omenn syndrome
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