Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Our Team
Homeostatically proliferating CD4 T cells are involved in the pathogenesis of an Omenn syndrome murine model.
[omenn syndrome]
Patients
with
Omenn
syndrome
(
OS
)
have
hypomorphic
RAG
mutations
and
develop
varying
manifestations
of
severe
combined
immunodeficiency
.
It
is
not
known
which
symptoms
are
caused
directly
by
the
RAG
mutations
and
which
depend
on
other
polymorphic
genes
.
Our
current
understanding
of
OS
is
limited
by
the
lack
of
an
animal
model
.
In
the
present
study
,
we
identified
a
C
5
7
BL
/
10
mouse
with
a
spontaneous
mutation
in
,
and
reduced
activity
of
,
RAG
1
.
Mice
bred
from
this
animal
contained
high
numbers
of
memory-phenotype
T
cells
and
experienced
hepatosplenomegaly
and
eosinophilia
,
had
oligoclonal
T
cells
,
and
demonstrated
elevated
levels
of
IgE
,
major
symptoms
of
OS
.
Depletion
of
CD
4
+
T
cells
in
the
mice
caused
a
reduction
in
their
IgE
levels
.
Hence
these
"
memory
mutant
"
mice
are
a
model
for
human
OS
;
many
symptoms
of
their
disease
were
direct
results
of
the
Rag
hypomorphism
and
some
were
caused
by
malfunctions
of
their
CD
4
+
T
cells
.
