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A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome.
[omenn syndrome]
Rag
enzymes
are
the
main
players
in
V
(
D
)
J
recombination
,
the
process
responsible
for
rearrangement
of
TCR
and
Ig
genes
.
Hypomorphic
Rag
mutations
in
humans
,
which
maintain
partial
V
(
D
)
J
activity
,
cause
a
peculiar
SCID
associated
with
autoimmune
-like
manifestations
,
Omenn
syndrome
(
OS
)
.
Although
a
deficient
ability
to
sustain
thymopoiesis
and
to
produce
a
diverse
T
and
B
cell
repertoire
explains
the
increased
susceptibility
to
severe
infections
,
the
molecular
and
cellular
mechanisms
underlying
the
spectrum
of
clinical
and
immunological
features
of
OS
remain
poorly
defined
.
In
order
to
better
define
the
molecular
and
cellular
pathophysiology
of
OS
,
we
generated
a
knockin
murine
model
carrying
the
Rag
2
R
229
Q
mutation
previously
described
in
several
patients
with
OS
and
leaky
forms
of
SCID
.
These
Rag
2
(
R
229
Q
/
R
229
Q
)
mice
showed
oligoclonal
T
cells
,
absence
of
circulating
B
cells
,
and
peripheral
eosinophilia
.
In
addition
,
activated
T
cells
infiltrated
gut
and
skin
,
causing
diarrhea
,
alopecia
,
and
,
in
some
cases
,
severe
erythrodermia
.
These
findings
were
associated
with
reduced
thymic
expression
of
Aire
and
markedly
reduced
numbers
of
naturally
occurring
Tregs
and
NKT
lymphocytes
.
In
conclusion
,
Rag
2
(
R
229
Q
/
R
229
Q
)
mice
mimicked
most
symptoms
of
human
OS
;
our
findings
support
the
notion
that
impaired
immune
tolerance
and
defective
immune
regulation
are
involved
in
the
pathophysiology
of
OS
.
Diseases
Validation
Diseases presenting
"and"
symptom
achondroplasia
adrenomyeloneuropathy
aniridia
carcinoma of the gallbladder
cutaneous mastocytosis
cystinuria
esophageal squamous cell carcinoma
harlequin ichthyosis
hodgkin lymphoma, classical
hydrocephalus with stenosis of the aqueduct of sylvius
kallmann syndrome
liposarcoma
locked-in syndrome
neonatal adrenoleukodystrophy
omenn syndrome
oral submucous fibrosis
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
sneddon syndrome
triple a syndrome
trochlear dysplasia
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