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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 forms"
symptom
classical phenylketonuria
congenital adrenal hyperplasia
congenital toxoplasmosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dystrophic epidermolysis bullosa
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
omenn syndrome
primary hyperoxaluria type 1
pyomyositis
severe combined immunodeficiency
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