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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
.
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Validation
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"first report"
symptom
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