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Hematopoietic stem cell transplantation for CD3δ deficiency.
[omenn syndrome]
CD
3
δ
deficiency
is
a
fatal
form
of
severe
combined
immunodeficiency
that
can
be
cured
by
hematopoietic
stem
cell
transplantation
(
HSCT
)
.
The
presence
of
a
thymus
loaded
with
T
-
cell
progenitors
in
patients
with
CD
3
δ
deficiency
may
require
special
considerations
in
choosing
the
regimen
of
conditioning
and
the
type
of
HSCT
.
To
study
the
outcome
of
CD
3
δ
deficiency
by
using
various
modalities
of
stem
cell
transplantation
.
We
analyzed
data
on
13
patients
with
CD
3
δ
deficiency
who
underwent
HSCT
in
7
centers
.
HSCT
was
performed
by
using
different
sources
of
donor
stem
cells
as
well
as
various
conditioning
regimens
.
One
patient
received
stem
cells
from
a
matched
related
donor
and
survived
after
a
second
transplant
,
needing
substantial
conditioning
in
order
to
engraft
.
Only
2
of
7
other
patients
who
received
a
mismatched
related
donor
transplant
survived
;
2
of
them
had
no
conditioning
,
whereas
the
others
received
various
combinations
of
conditioning
regimens
.
Engraftment
of
T
cells
in
the
survivors
appears
incomplete
.
Three
other
patients
who
received
stem
cells
from
a
matched
unrelated
donor
survived
and
enjoyed
full
immune
reconstitution
.
Two
patients
received
unrelated
cord
blood
without
conditioning
.
One
of
them
has
had
a
partial
but
stable
engraftment
,
whereas
the
other
engrafted
well
but
is
only
12
months
after
HSCT
.
We
also
report
here
for
the
first
time
that
patients
with
CD
3
δ
deficiency
can
present
with
typical
features
of
Omenn
syndrome
.
HSCT
is
a
successful
treatment
for
patients
with
CD
3
δ
deficiency
.
The
small
number
of
patients
in
this
report
prevents
definitive
statements
on
the
importance
of
survival
factors
,
but
several
are
suggested
:
(
1
)
HLA-matched
donor
transplants
are
associated
with
superior
reconstitution
and
survival
than
are
mismatched
donor
transplants
;
(
2
)
substantial
conditioning
appears
necessary
;
and
(
3
)
early
diagnosis
and
absence
of
opportunistic
infections
may
affect
outcome
.