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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
"immunodeficiency"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
cushing syndrome
dracunculiasis
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
kabuki syndrome
legionellosis
malignant atrophic papulosis
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
primary hyperoxaluria type 1
pyomyositis
severe combined immunodeficiency
sneddon syndrome
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated
