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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
.
Diseases
Validation
Diseases presenting
"pneumonia"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
allergic bronchopulmonary aspergillosis
alpha-thalassemia
classical phenylketonuria
cohen syndrome
congenital diaphragmatic hernia
heparin-induced thrombocytopenia
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
lamellar ichthyosis
legionellosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
oculocutaneous albinism
omenn syndrome
pleomorphic liposarcoma
primary effusion lymphoma
proteus syndrome
pyomyositis
scrub typhus
severe combined immunodeficiency
triple a syndrome
waldenström macroglobulinemia
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated