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Omenn syndrome: a lack of tolerance on the background of deficient lymphocyte development and maturation.
[omenn syndrome]
Omenn
syndrome
is
a
rare
inherited
primary
immunodeficiency
characterized
by
severe
combined
immunodeficiency
in
combination
with
autoimmune
features
leading
to
squamous
erythrodermia
,
alopecia
,
lymphadenopathy
,
hepatosplenomegaly
,
and
intractable
diarrhea
.
Recent
advances
include
characterizing
the
genetic
basis
of
the
syndrome
and
integrating
the
genetic
defects
into
knowledge
of
tolerance
induction
.
Molecular
studies
have
shown
that
besides
the
well-known
hypomorphic
recombination
activating
gene
defects
,
mutations
in
the
nonhomologous
end-joining
factor
Artemis
and
in
the
interleukin-
7
receptor
alpha
chain
can
contribute
to
the
development
of
Omenn
syndrome
.
These
investigations
established
that
Omenn
syndrome
is
a
genetically
heterogeneous
condition
.
Whereas
the
majority
of
patients
with
Omenn
syndrome
bear
hypomorphic
gene
alterations
,
some
exhibit
somatic
mosaicism
due
to
second
-site
reversions
of
null
alleles
.
A
lack
of
central
tolerance
contributes
to
the
autoimmune
pathology
of
the
disease
.
Research
has
begun
to
clarify
the
genetic
defects
and
the
conditions
underlying
the
lack
of
tolerance
enforcement
that
predispose
to
Omenn
syndrome
.
Clinical
applications
of
this
research
include
the
identification
of
the
causative
genetic
defect
in
the
majority
of
Omenn
syndrome
cases
and
the
use
of
this
genetic
knowledge
in
family
and
prenatal
analyses
and
in
difficult
differential
autoimmune
diagnoses
.
Diseases
Validation
Diseases presenting
"genetically heterogeneous condition"
symptom
omenn syndrome
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