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Unusual clinical presentations of familial hemophagocytic lymphohistiocytosis type-2.
[hodgkin lymphoma, classical]
Mutations
of
PRF
1
gene
have
been
identified
in
familial
hemophagocytic
lymphohistiocytosis
type
-
2
(
FHL-
2
)
patients
,
and
it
has
been
reported
as
the
commonest
gene
defect
causing
FHL
.
Patients
with
severe
perforin
deficiency
usually
present
within
first
1
year
of
life
and
with
severe
clinical
manifestations
.
We
report
4
cases
of
severe
perforin
deficiency
presenting
with
delayed
onset
and
unusual
clinical
presentations
viz
.
,
B-
cell
acute
lymphoblastic
leukemia
,
the
Hodgkin
lymphoma
,
tuberculosis
,
and
the
Still
disease
.
Three
of
these
4
cases
showed
a
common
heterozygous
missense
mutation
(
p
.
Trp
129
S
er
)
.
Two
of
these
patients
expired
because
of
uncontrolled
hemophagocytic
lymphohistiocytosis
,
one
patient
had
3
relapses
while
on
therapy
and
one
patient
was
in
remission
on
maintenance
therapy
.
This
study
shows
variety
of
clinical
manifestations
of
perforin
deficiency
and
although
the
onset
of
hemophagocytic
lymphohistiocytosis
is
delayed
in
these
patients
,
the
outcome
remains
poor
as
in
classical
severe
perforin
deficiency
patients
.
Diseases
Validation
Diseases presenting
"classical severe perforin deficiency"
symptom
hodgkin lymphoma, classical
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