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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
"failure to thrive"
symptom
22q11.2 deletion syndrome
alexander disease
child syndrome
congenital diaphragmatic hernia
cystinuria
familial hypocalciuric hypercalcemia
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
neonatal adrenoleukodystrophy
omenn syndrome
papillon-lefèvre syndrome
pyruvate dehydrogenase deficiency
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated