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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
"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
