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A random Abstract
Our Project
Our Team
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
"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