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Successful haematopoietic stem cell transplantation in 44 children from healthy siblings conceived after preimplantation HLA matching.
[wiskott-aldrich syndrome]
Haematopoietic
stem
cell
transplantation
(
HSCT
)
remains
the
best
therapeutic
option
for
many
acquired
and
inherited
paediatric
haematological
disorders
.
Unfortunately
,
the
probability
of
finding
an
HLA
matched
donor
is
limited
.
An
alternative
technique
is
PGD
combined
with
HLA
matching
,
which
offers
the
possibility
of
selecting
unaffected
embryos
that
are
HLA
compatible
with
the
sick
child
,
with
the
aim
of
possible
use
of
stem
cells
from
the
resulting
baby
in
future
.
Since
the
first
successful
report
for
Fanconi
anaemia
a
decade
ago
,
the
therapeutic
success
of
this
technique
was
reported
in
a
few
cases
and
for
a
limited
number
of
disorders
.
Here
,
we
report
full
recovery
of
44
sick
children
who
received
HSCT
from
healthy
infants
conceived
after
pre-implantation
HLA
matching
for
the
following
10
indications
;
beta
-thalassaemia
,
Wiskott-
Aldrich
syndrome
,
Fanconi
anaemia
,
sickle
cell
anaemia
,
acute
myeloid
leukaemia
,
acute
lymphoblastic
leukaemia
,
Glanzmann
's
thrombasthaenia
,
Diamond-
Blackfan
anaemia
,
X-
linked
adrenoleukodystrophy
and
mucopolysaccharidosis
type
I
.
No
serious
complications
were
observed
among
recipients
and
donors
.
Graft
failure
occurred
in
four
children
with
beta
-thalassaemia
where
a
second
HSCT
was
planned
.
Preimplantation
HLA
matching
is
a
reliable
technique
and
provides
a
realistic
option
for
couples
seeking
treatment
for
an
affected
child
when
no
HLA-matched
donor
is
available
.
Diseases
Validation
Diseases presenting
"limited number"
symptom
22q11.2 deletion syndrome
achondroplasia
cholangiocarcinoma
congenital diaphragmatic hernia
dedifferentiated liposarcoma
dentinogenesis imperfecta
epidermolysis bullosa simplex
erythropoietic protoporphyria
liposarcoma
neonatal adrenoleukodystrophy
pleomorphic liposarcoma
primary hyperoxaluria type 1
proteus syndrome
trochlear dysplasia
well-differentiated liposarcoma
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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