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Cartilage-hair hypoplasia: follow-up of immunodeficiency in two patients.
[hirschsprung disease]
To
study
the
changes
in
the
immunological
status
in
2
children
with
cartilage
hair
hypoplasia
(
CHH
)
.
A
4
-
6
year
immunological
follow-up
from
infancy
.
In
infancy
the
children
presented
a
combined
T
cell
and
B
cell
immunodeficiency
which
partly
resolved
in
time
.
Mitogen-induced
T
cell
proliferation
values
fluctuated
but
lymphopenia
has
remained
constant
.
Both
patients
had
no
recent
thymic
emigrants
(
TREC
)
.
Both
children
have
suffered
from
a
prolonged
viral
infection
.
Hypogammaglobulinemia
normalized
during
the
first
years
of
life
but
both
children
have
a
specific
antibody
deficiency
(
SAD
)
.
The
changes
in
the
immunological
status
in
CHH
patients
emphasize
the
importance
of
a
regular
follow-up
.
SAD
should
be
searched
for
in
CHH
.
The
absence
of
TRECs
supports
combined
immunodeficiency
and
possible
need
of
hematopoietic
stem
cell
transplantation
.
Diseases
Validation
Diseases presenting
"first years"
symptom
classical phenylketonuria
congenital diaphragmatic hernia
congenital toxoplasmosis
hirschsprung disease
wolf-hirschhorn syndrome
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