Rare Diseases Symptoms Automatic Extraction
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Omenn syndrome: two case reports.
[omenn syndrome]
Omenn
syndrome
is
a
variant
of
combined
severe
immunodeficiency
due
to
mutations
in
RAG
genes
.
It
is
characterized
by
polymorph
symptoms
and
lethal
outcome
.
We
report
on
two
cases
of
Omenn
syndrome
.
Infants
were
aged
50
and
46
days
.
The
clinical
and
biological
signs
were
typical
and
complete
in
the
first
case
.
In
the
second
case
,
only
the
cutaneous
signs
were
present
.
Diagnosis
was
confirmed
by
genetic
study
.
The
Rag
1
T
631
mutation
was
found
in
these
two
patients
.
Hematopoietic
stem
cell
transplantation
could
not
be
done
and
the
evolution
was
fatal
in
both
cases
because
of
severe
infectious
episodes
.
Prenatal
diagnosis
was
performed
in
the
two
families
and
each
family
has
currently
a
healthy
child
.
In
conclusion
,
early
diagnosis
of
Omenn
syndrome
may
avoid
infectious
complications
responsible
for
delay
in
therapeutic
management
.
Genetic
study
confirms
the
diagnosis
.
The
treatment
usually
consists
of
hematopoietic
stem
cell
transplantation
in
association
with
immunosuppressive
drugs
.
Prenatal
diagnosis
is
very
important
to
allow
parents
to
have
healthy
children
.
