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Severe combined immunodeficiency in Serbia and Montenegro between years 1986 and 2010: a single-center experience.
[omenn syndrome]
Severe
combined
immunodeficiency
(
SCID
)
,
including
the
'
variant
'
Omenn
syndrome
(
OS
)
,
represent
a
heterogeneous
group
of
monogenic
disorders
characterized
by
defect
in
differentiation
of
T
-
and
/
or
B
lymphocytes
and
susceptibility
to
infections
since
birth
.
In
the
period
of
25
years
,
between
January
1986
and
December
2010
,
a
total
of
21
patients
(
15
SCID
,
6
OS
)
were
diagnosed
in
Mother
&
Child
Health
Institute
of
Serbia
,
a
tertiary-care
teaching
University
hospital
and
a
national
referral
center
for
patients
affected
with
primary
immunodeficiency
(
PID
)
.
The
diagnoses
were
based
on
anamnestic
data
,
clinical
findings
,
and
immunological
and
genetic
analysis
.
The
median
age
at
the
onset
of
the
first
infection
was
the
2nd
month
of
life
.
Seven
(
33
%
)
patients
had
positive
family
history
for
SCID
.
Out
of
five
male
infants
with
T
-B
+
NK-
SCID
phenotype
,
mutation
analysis
revealed
interleukin-
2
(
common
)
gamma-chain
receptor
(
IL
2
RG
)
mutations
in
3
with
positive
X-
linked
family
history
,
and
Janus-kinase
(
JAK
)
-
3
gene
defects
in
the
other
two
.
Six
patients
had
T
-B-NK
+
SCID
phenotype
and
further
6
features
of
OS
,
11
of
which
had
recombinase-activating
gene
(
RAG
1
or
RAG
2
)
and
1
Artemis
gene
mutations
.
One
child
with
T
+
B
+
NK
+
SCID
phenotype
as
well
had
proven
RAG
mutation
.
One
child
each
with
T
-B
+
NK
+
SCID
phenotype
,
CD
8
lymphopenia
and
unknown
phenotype
remained
without
known
underlying
genetic
defect
.
Of
the
eight
patients
who
underwent
hematopoetic
stem
cell
transplant
(
HSCT
)
5
survived
,
the
other
13
died
between
2
days
and
12
months
after
diagnosis
was
made
.
Early
diagnosis
of
SCID
,
before
onset
of
severe
infections
,
offers
possibility
for
HSCT
and
cure
.
Education
of
primary
-care
pediatricians
,
in
particular
including
awareness
of
the
risk
of
using
live
vaccines
and
non-irradiated
blood
products
,
should
improve
prognosis
of
SCID
in
our
setting
.
Diseases
Validation
Diseases presenting
"severe infections"
symptom
omenn syndrome
wiskott-aldrich syndrome
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