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Clinical characteristics and molecular analysis of three Chinese children with Omenn syndrome.
[omenn syndrome]
Omenn
syndrome
(
OS
)
is
a
rare
autosomal
recessive
genetic
disorder
and
presents
symptoms
of
severe
combined
immunodeficiency
characterized
by
erythrodermia
,
eosinophilia
,
hepatosplenomegaly
,
lymphadenopathy
,
and
elevated
serum
IgE
levels
.
OS
has
been
found
to
be
caused
by
mutations
in
RAG
1
or
RAG
2
gene
that
result
in
partial
V
(
D
)
J
recombination
activity
.
No
study
on
OS
has
been
reported
in
Chinese
children
so
far
.
In
this
study
,
the
genotype
and
phenotypes
of
three
infants
with
OS
from
three
unrelated
Chinese
families
were
investigated
.
All
the
three
children
had
most
of
the
characteristics
of
OS
except
normal
serum
IgE
level
.
Compound
heterozygosity
mutations
in
RAG
1
gene
(
1983
G
>
A
;
2444
C
>
T
and
2219
C
>
T
;
3127
C
>
G
)
were
identified
in
two
cases
,
and
a
homozygous
deletion
mutation
with
a
premature
stop
codon
was
found
at
residue
2302
of
RAG
1
gene
(
2302
delT
,
I
729
X
)
in
the
remaining
case
,
including
three
novel
mutations
(
2302
delT
,
I
729
X
;
2219
C
>
T
,
R
699
W
;
and
3127
C
>
G
,
Y
1001
X
)
.
Spectratyping
analysis
of
T
-
cell
receptor
β-chain
variable
region
(
TCRVβ
)
gene
rearrangement
was
performed
in
case
1
and
case
2
.
All
the
25
TCRVβ
subfamilies
presented
monoclonal
or
oligoclonal
peaks
in
case
1
and
11
TCRVβ
subfamilies
were
very
weak
or
even
absent
in
case
2
.
This
was
the
first
report
about
OS
in
Chinese
children
.
Molecular
genetic
testing
represents
an
important
tool
for
early
confirmed
diagnosis
and
may
allow
accurate
carrier
detection
and
prenatal
diagnosis
.
Diseases
Validation
Diseases presenting
"premature stop codon"
symptom
aromatase deficiency
cadasil
classical phenylketonuria
cohen syndrome
cystinuria
dystrophic epidermolysis bullosa
erythropoietic protoporphyria
familial hypocalciuric hypercalcemia
junctional epidermolysis bullosa
kindler syndrome
lamellar ichthyosis
omenn syndrome
triple a syndrome
x-linked adrenoleukodystrophy
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