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MEFV gene polymorphisms and TNFRSF1A mutation in patients with inflammatory myopathy with abundant macrophages.
[familial mediterranean fever]
Inflammatory
myopathy
with
abundant
macrophages
(
IMAM
)
has
recently
been
proposed
as
a
new
clinical
condition
.
Although
IMAM
shares
certain
similarities
with
other
inflammatory
myopathies
,
the
mechanisms
responsible
for
this
condition
remain
unknown
.
Patients
with
familial
Mediterranean
fever
(
FMF
)
and
tumour
necrosis
factor
receptor-associated
periodic
syndrome
(
TRAPS
)
also
often
develop
myalgia
.
We
therefore
investigated
the
polymorphisms
or
mutations
of
MEFV
and
TNFRSF
1
A
genes
in
patients
with
IMAM
to
identify
their
potential
role
in
this
condition
.
We
analysed
the
clinical
features
of
nine
patients
with
IMAM
and
sequenced
exons
of
the
MEFV
and
TNFRSF
1
A
genes
.
The
patients
with
IMAM
had
clinical
symptoms
such
as
myalgia
,
muscle
weakness
,
erythema
,
fever
and
arthralgia
.
Although
none
of
the
patients
were
diagnosed
with
FMF
or
TRAPS
,
seven
demonstrated
MEFV
polymorphisms
(
G
304
R
,
R
202
R
,
E
148
Q
,
E
148
Q-L
110
P
and
P
369
S-R
408
Q
)
,
and
one
demonstrated
a
TNFRSF
1
A
mutation
(
C
43
R
)
.
These
results
suggest
that
MEFV
gene
polymorphisms
and
TNFRSF
1
A
mutation
are
susceptibility
and
modifier
genes
in
IMAM
.
Diseases
Validation
Diseases presenting
"tnfrsf1a mutation"
symptom
familial mediterranean fever
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