Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Severe combined immunodeficiency in Brazil: management, prognosis, and BCG-associated complications.
[severe combined immunodeficiency]
Severe
combined
immunodeficiency
(
SCID
)
is
one
of
the
most
severe
forms
of
primary
immunodeficiency
.
The
objectives
of
this
study
were
to
analyze
the
diagnosis
,
treatment
,
and
prognosis
of
SCID
in
Brazil
and
to
document
the
impact
of
BCG
vaccine
.
We
actively
searched
for
cases
by
contacting
all
Brazilian
referral
centers
.
We
contacted
23
centers
and
70
patients
from
65
families
.
Patients
were
born
between
1996
and
2011
,
and
49
(
70
%
)
were
male
.
More
than
half
(
39
)
of
the
diagnoses
were
made
after
2006
.
Mean
age
at
diagnosis
declined
from
9
.
7
to
6
.
1
months
(
P
=
.
058
)
before
and
after
2000
,
respectively
,
and
mean
delay
in
diagnosis
decreased
from
7
.
9
to
4
.
2
months
(
P
=
.
009
)
.
Most
patients
(
60
/
70
)
were
vaccinated
with
BCG
before
the
diagnosis
,
39
of
60
(
65
%
)
had
complications
related
to
BCG
vaccine
,
and
the
complication
was
disseminated
in
29
of
39
(
74
.
3
%
)
.
Less
than
half
of
the
patients
(
30
,
42
.
9
%
)
underwent
hematopoietic
stem
cell
transplantation
(
HSCT
)
.
Half
of
the
patients
died
(
35
,
50
%
)
,
and
23
of
these
patients
had
not
undergone
HSCT
.
Disseminated
BCG
was
the
cause
of
death
,
either
alone
or
in
association
with
other
causes
,
in
9
of
31
cases
(
29
%
,
no
data
for
4
cases
)
.
In
Brazil
,
diagnosis
of
SCID
has
improved
over
the
last
decade
,
both
in
terms
of
the
number
of
cases
and
age
at
diagnosis
,
although
a
much
higher
number
of
cases
had
been
expected
.
Mortality
is
higher
than
in
developed
countries
.
Complications
of
BCG
vaccine
are
an
important
warning
sign
for
the
presence
of
SCID
and
account
for
significant
morbidity
during
disease
progression
.
Diseases
Validation
Diseases presenting
"severe combined immunodeficiency"
symptom
achondroplasia
alpha-thalassemia
child syndrome
cholangiocarcinoma
junctional epidermolysis bullosa
krabbe disease
omenn syndrome
severe combined immunodeficiency
wiskott-aldrich syndrome
This symptom has already been validated