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Novel mutatıons and diverse clinical phenotypes in recombinase-activating gene 1 deficiency.
[omenn syndrome]
Severe
combined
immunodeficiency
is
within
a
heterogeneous
group
of
inherited
defects
throughout
the
development
of
T
-
and
/
or
B-
lymphocytes
.
Mutations
in
recombinase-activating
genes
1
or
2
(
RAG
1
/
2
)
represent
approximately
10
%
of
all
SCID
cases
.
RAG
1
/
2
are
essential
for
V
(
D
)
J
rearrangement
of
the
B-
and
T
-
cell
receptors
.
T
he
aim
of
this
study
was
to
review
clinical
,
immunological
and
molecular
findings
of
Turkish
SCID
patients
with
RAG
1
defects
and
to
draw
attention
to
novel
mutations
,
genotype-phenotype
correlations
and
the
high
rate
of
BCG
infections
within
this
group
.
Eleven
patients
(
F
/
M
:
6
/
5
)
were
included
.
Molecular
,
immunological
and
clinical
data
were
evaluated
.
Five
patients
were
classified
as
T
-B-NK
+
SCID
,
four
patients
as
T
+
B-NK
+
SCID
(
two
of
these
patients
were
diagnosed
as
classical
Omenn
syndrome
)
and
two
patients
as
T
+
B
+
NK
+
SCID
with
respect
to
clinical
presentations
and
immunological
data
.
Mean
age
of
the
whole
study
group
,
mean
age
at
onset
of
symptoms
and
mean
age
at
diagnosis
were
:
33
.
0
±
42
.
8
,
3
.
1
±
3
.
3
and
10
.
4
±
13
.
5
months
,
respectively
.
Consanguinity
rate
was
54
%
.
Some
novel
mutations
were
found
in
RAG
1
gene
in
addition
to
previously
reported
mutations
.
Genotype-phenotype
correlation
was
not
significantly
apparent
in
most
of
the
cases
.
BCG
infection
was
observed
in
36
.
4
%
of
patients
(
two
BCG-osis
and
two
BCG-itis
)
.
Epigenetic
factors
such
as
compound
genetic
defects
,
enviromental
factors
,
and
exposure
to
recurrent
infections
may
modify
phenotypical
characteristics
of
RAG
deficiencies
.
Inoculation
of
live
vaccines
such
as
BCG
should
be
postponed
until
primary
immunodeficiency
disease
is
excluded
with
appropriate
screening
tests
in
suspected
cases
.
Diseases
Validation
Diseases presenting
"recurrent infections"
symptom
22q11.2 deletion syndrome
junctional epidermolysis bullosa
kabuki syndrome
omenn syndrome
wiskott-aldrich syndrome
This symptom has already been validated
