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Primary immunodeficiencies unravel critical aspects of the pathophysiology of autoimmunity and of the genetics of autoimmune disease.
[omenn syndrome]
Primary
Immunodeficiencies
(
PIDs
)
represent
unique
opportunities
to
understand
the
operation
of
the
human
immune
system
.
Accordingly
,
PIDs
associated
with
autoimmune
manifestations
provide
insights
into
the
pathophysiology
of
autoimmunity
as
well
as
into
the
genetics
of
autoimmune
diseases
(
AID
)
.
Epidemiological
data
show
that
there
are
PIDs
systematically
associated
with
AID
,
such
as
immune
dysregulation
,
polyendocrinopathy
,
enteropathy
,
X-
linked
syndrome
(
IPEX
)
,
Omenn
syndrome
,
autoimmune
polyendocrinopathy-candidiasis-ectodermal
dystrophy
(
APECED
)
,
autoimmune
lymphoproliferative
syndrome
(
ALPS
)
,
and
C
1
q
deficiency
,
while
strong
associations
are
seen
with
a
handful
of
other
deficits
.
We
interpret
such
stringent
disease
associations
,
together
with
a
wealth
of
observations
in
experimental
systems
,
as
indicating
first
of
all
that
natural
tolerance
to
body
components
is
an
active
,
dominant
process
involving
many
of
the
components
that
ensure
responsiveness
,
rather
than
,
as
previously
believed
,
the
result
of
the
mere
purge
of
autoreactivities
.
More
precisely
,
it
seems
that
deficits
of
Treg
cell
development
,
functions
,
numbers
,
and
T
cell
receptor
repertoire
are
among
the
main
factors
for
autoimmunity
pathogenesis
in
many
(
if
not
all
)
PIDs
most
frequently
presenting
with
autoimmune
features
.
Clearly
,
other
pathophysiological
mechanisms
are
also
involved
in
autoimmunity
,
but
these
seem
less
critical
in
the
process
of
self-tolerance
.
Comparing
the
clinical
picture
of
IPEX
cases
with
those
,
much
less
severe
,
of
ALPS
or
APECED
,
provides
some
assessment
of
the
relative
importance
of
each
set
of
mechanisms
.
Diseases
Validation
Diseases presenting
"autoimmune manifestations"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
omenn syndrome
severe combined immunodeficiency
wiskott-aldrich syndrome
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