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
"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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