Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"dominant process involving many of the components that ensure responsiveness"
symptom
omenn syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom