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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
"deficient patients"
symptom
aniridia
classical phenylketonuria
congenital toxoplasmosis
erythropoietic protoporphyria
homocystinuria without methylmalonic aciduria
neonatal adrenoleukodystrophy
omenn syndrome
phenylketonuria
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
zellweger syndrome
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