Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Molecular analysis of T-B-NK+ severe combined immunodeficiency and Omenn syndrome cases in Saudi Arabia.
[omenn syndrome]
Children
with
Severe
Combined
Immunodeficiency
(
SCID
)
lack
autologous
T
lymphocytes
and
present
with
multiple
infections
early
in
infancy
.
Omenn
syndrome
is
characterized
by
the
sole
emergence
of
oligoclonal
auto-reactive
T
lymphocytes
,
resulting
in
erythroderma
and
enteropathy
.
Omenn
syndrome
(
OS
)
shares
the
genetic
aetiology
of
T
-B-NK
+
SCID
,
with
mutations
in
RAG
1
,
RAG
2
,
or
DCLRE
1
C
.
Patients
diagnosed
with
T
-B-NK
+
SCID
or
phenotypes
suggestive
of
Omenn
syndrome
were
investigated
by
molecular
genetic
studies
using
gene
tightly
linked
microsatellite
markers
followed
by
direct
sequencing
of
the
coding
regions
and
splice
sites
of
the
respective
candidate
genes
.
We
report
the
molecular
genetic
basis
of
T
-B-NK
+
SCID
in
22
patients
and
of
OS
in
seven
patients
all
of
Arab
descent
from
Saudi
Arabia
.
Among
the
SCID
patients
,
six
(
from
four
families
)
displayed
four
homozygous
missense
mutations
in
RAG
1
including
V
43
3
M
,
R
624
H
,
R
394
W
,
and
R
559
S
.
Another
four
patients
(
from
three
familes
)
showed
3
novel
homozygous
RAG
2
mutations
including
K
127
X
,
S
18
X
,
and
Q
4
X
;
all
of
which
predict
unique
premature
truncations
of
RAG
2
protein
.
Among
Omenn
patients
,
four
(
from
two
families
)
have
S
401
P
and
R
396
H
mutations
in
RAG
1
,
and
a
fifth
patient
has
a
novel
I
444
M
mutation
in
RAG
2
.
Seven
other
patients
(
six
SCID
and
one
OS
)
showed
a
gross
deletion
in
exons
1
-
3
in
DCLRE
1
C
.
Altogether
,
mutations
in
RAG
1
/
2
and
DCLRE
1
C
account
for
around
50
%
and
25
%
,
respectively
,
in
our
study
cohort
,
a
proportion
much
higher
than
in
previous
reported
series
.
Seven
(
24
%
)
patients
lack
a
known
genetic
aetiology
,
strongly
suggesting
that
they
carry
mutations
in
novel
genes
associated
with
SCID
and
Omenn
disorders
that
are
yet
to
be
discovered
in
the
Saudi
population
.
M
utation-free
patients
who
lack
a
known
genetic
aetiology
are
likely
to
carry
mutations
in
the
regulatory
elements
in
the
SCID
-causing
genes
or
in
novel
genes
that
are
yet
to
be
discovered
.
Our
efforts
are
underway
to
investigate
this
possibility
by
applying
the
whole
genome
scans
on
these
cases
via
the
use
of
Affymetrix
high
density
DNA
SNP
chips
in
addition
to
homozygosity
mapping
.
Diseases
Validation
Diseases presenting
"known genetic aetiology"
symptom
omenn syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom