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Omenn syndrome with mutation in RAG1 gene.
[omenn syndrome]
Omenn
syndrome
is
a
form
of
severe
combined
immunodeficiency
associated
with
erythrodermia
,
hepatosplenomegaly
,
lymphadenopathy
,
and
alopecia
.
Inherited
hypomorphic
mutations
in
the
recombination
activating
genes
1
and
2
(
RAG
1
and
RAG
2
)
and
in
ARTEMIS
genes
and
more
recently
defects
in
IL
7
RA
,
and
RMRP
genes
have
been
described
to
be
responsible
of
this
peculiar
immunodeficiency
.
The
authors
report
here
a
Moroccan
patient
of
four
-
months
-old
with
classical
features
of
Omenn
syndrome
,
carrying
a
deletion
at
the
N
terminal
part
of
RAG
1
.
Early
recognition
of
this
condition
is
important
for
genetic
counseling
and
early
treatment
.
Diseases
Validation
Diseases presenting
"early treatment"
symptom
acute rheumatic fever
allergic bronchopulmonary aspergillosis
benign recurrent intrahepatic cholestasis
cowden syndrome
fabry disease
familial mediterranean fever
homocystinuria without methylmalonic aciduria
kallmann syndrome
krabbe disease
omenn syndrome
phenylketonuria
pyomyositis
scrub typhus
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