Rare Diseases Symptoms Automatic Extraction
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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
.