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Bone marrow transplantation without conditioning regimen in Omenn syndrome: a case report.
[omenn syndrome]
OS
is
a
non-
SCID
immunodeficiency
characterized
by
a
poor
outcome
even
after
BMT
.
We
report
here
a
case
of
BMT
without
preparative
conditioning
regimen
,
and
with
a
successful
engraftment
in
a
five
-
month
-old
infant
with
OS
.
The
patient
was
transplanted
with
15
x
10
(
8
)
bone
marrow
mononuclear
cells
/
kg
,
from
his
HLA
matched
brother
,
without
preparative
regimen
and
GVHD
prophylaxis
.
Immunological
status
was
assessed
before
and
after
the
BMT
,
and
the
engraftment
was
monitored
with
microchimerism
analysis
.
Six
days
after
BMT
,
an
acute
GVHD
involving
first
the
skin
,
then
the
liver
and
gut
,
complicated
the
post-transplantation
course
.
An
excellent
engraftment
was
confirmed
by
donor
chimerism
over
95
%
respectively
at
day
post-transplantation
30
,
60
,
90
,
and
150
.
The
cellular
immunity
of
the
patient
was
restored
,
and
infectious
complications
decreased
after
BMT
.
Later
the
patient
experienced
chronic
GVHD
,
and
he
died
on
day
post-transplantation
246
from
GVHD
.
BMT
without
conditioning
regimen
for
OS
is
feasible
,
but
there
must
be
a
megadose
cell
transplantation
,
and
appropriate
prophylactic
immunosuppressive
treatment
to
prevent
acute
GVHD
.
Diseases
Validation
Diseases presenting
"immunodeficiency"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
cushing syndrome
dracunculiasis
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
kabuki syndrome
legionellosis
malignant atrophic papulosis
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
primary hyperoxaluria type 1
pyomyositis
severe combined immunodeficiency
sneddon syndrome
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated