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
.