Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Murine models of Omenn syndrome.
[omenn syndrome]
In
the
40
years
since
Harvard
medical
student
Gilbert
Omenn
first
described
a
rare
,
inherited
disorder
producing
a
paradoxical
combination
of
immunodeficiency
and
immune
dysregulation
,
the
pathogenesis
of
Omenn
syndrome
(
OS
)
has
remained
mysterious
.
In
separate
studies
reported
in
this
issue
of
the
JCI
,
two
mouse
models
bearing
mutations
in
the
V
(
D
)
J
recombinase
analogous
to
those
causing
human
OS
have
been
shown
to
recapitulate
the
disease
and
provide
insight
into
the
genesis
of
immunodeficiency
combined
with
autoimmunity
and
atopy
in
OS
and
other
disease
settings
(
see
the
related
articles
beginning
on
pages
1260
and
1270
)
.
Diseases
Validation
Diseases presenting
"immunodeficiency"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
cushing syndrome
dracunculiasis
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
kabuki syndrome
legionellosis
malignant atrophic papulosis
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
primary hyperoxaluria type 1
pyomyositis
severe combined immunodeficiency
sneddon syndrome
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated