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[Clinical phenotype and gene diagnostic analysis of Omenn syndrome].
[omenn syndrome]
Omenn
syndrome
is
a
rare
autosomal
recessive
hereditary
severe
combined
immunodeficiency
.
The
purpose
of
this
study
was
to
understand
clinical
characteristics
and
genetic
mutation
type
of
Omenn
syndrome
and
to
improve
the
recognition
of
Omenn
syndrome
among
pediatric
clinicians
.
One
suspected
case
of
severe
combined
immunodeficiency
was
found
to
have
pneumonia
repeatedly
,
intractable
diarrhea
,
poor
antibiotic
treatment
effect
,
lymphadenopathy
,
hepatosplenomegaly
and
erythroderma
.
The
patient
was
diagnosed
as
having
Omenn
syndrome
by
RT-PCR
,
and
the
expression
of
RAG
1
/
RAG
2
and
gene
analysis
of
RAG
1
/
RAG
2
were
performed
.
The
classification
of
lymphocyte
was
CD
3
(
+
)
cells
(
35
.
3
%
)
,
CD
19
(
+
)
cells
(
0
.
4
%
)
,
CD
16
(
+
)
cells
(
57
.
6
%
)
.
After
stimulation
with
phytohemagglutinin
(
PHA
)
,
lymphocyte
proliferation
of
the
child
was
extremely
low
.
Genetic
studies
showed
RAG
1
homozygous
deletion
mutation
(
2302
del
T
)
.
He
had
detectable
activated
T
-
lymphocytes
with
low
circulating
B-
lymphocytes
and
no
evidence
of
maternal
T
-
cell
engrafment
as
indicated
by
the
short
tandem
repeat
(
STR
)
analysis
.
Omenn
syndrome
is
a
severe
combined
immunodeficiency
disease
caused
by
mutations
in
the
RAG
1
/
RAG
2
gene
.
The
disease
has
been
reported
rarely
in
China
.
The
clinical
manifestations
of
the
disease
is
early
postnatal
repeated
infections
and
erythroderma
.
Mutation
analysis
of
RAG
1
/
RAG
2
gene
may
help
to
confirm
the
diagnosis
and
may
be
useful
in
early
immune
reconstitution
and
genetic
counseling
.