Rare Diseases Symptoms Automatic Extraction
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Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency.
[omenn syndrome]
Severe
combined
immunodeficiency
(
SCID
)
is
one
of
the
most
severe
forms
of
primary
immunodeficiency
characterized
by
absence
of
functional
T
lymphocytes
.
It
is
a
paediatric
emergency
,
which
is
life-threatening
when
recognized
too
late
.
The
clinical
presentation
varies
from
the
classical
form
of
SCID
through
atypical
SCID
to
Omenn
syndrome
.
In
addition
,
there
is
a
considerable
immunological
variation
,
which
can
hamper
the
diagnosis
.
In
this
educational
review
,
we
describe
the
immunopathological
background
,
clinical
presentations
and
diagnostic
process
of
SCID
,
as
well
as
the
therapeutic
possibilities
.
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