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Omenn syndrome: a rare case of neonatal erythroderma.
[omenn syndrome]
Omenn
syndrome
is
a
severe
combined
immunodeficiency
characterized
by
erythroderma
,
hepatosplenomegaly
,
lymphadenopathy
and
failure
to
thrive
,
with
activated
oligoclonal
T
lymphocytes
and
an
absence
of
circulating
B
cells
.
A
3
day
-old
boy
presented
with
a
congenital
erythroderma
.
Investigations
revealed
a
marked
neutropenia
and
lymphopenia
and
the
absence
of
a
thymus
.
Genetic
studies
showed
RAG
1
mutations
.
He
was
successfully
treated
with
an
HLA
identical
bone
marrow
transplantation
.
Omenn
syndrome
is
a
rare
severe
combined
immunodeficiency
.
Most
cases
are
due
to
mutations
in
the
RAG
genes
with
autosomal
recessive
transmission
.
Our
observation
is
original
because
of
an
incomplete
clinical
presentation
.
During
the
course
of
the
disease
,
the
child
had
no
failure
to
thrive
,
no
organomegaly
and
no
recurrent
infection
.
Immunodeficiency
must
be
excluded
in
every
case
of
neonatal
erythroderma
and
an
immunological
assessment
should
be
performed
without
delay
.
Diseases
Validation
Diseases presenting
"activated oligoclonal t lymphocytes and an absence"
symptom
omenn syndrome
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