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Preimplantation diagnosis for immunodeficiencies.
[omenn syndrome]
Preimplantation
genetic
diagnosis
(
PGD
)
has
become
an
established
procedure
for
the
detection
of
single
gene
disorders
,
and
has
recently
been
performed
together
with
human
leukocyte
antigen
(
HLA
)
typing
for
couples
with
children
affected
by
genetic
disorders
that
require
HLA-identical
stem
cell
transplantation
therapy
.
For
these
couples
,
PGD
can
ensure
the
birth
of
an
unaffected
child
,
and
because
HLA-matched
stem
cell
transplantation
improves
or
completely
restores
the
immune
system
,
this
child
may
also
serve
as
a
potential
stem
cell
donor
for
affected
siblings
.
This
paper
presents
the
first
cumulative
experience
(
18
cycles
)
of
PGD
for
detection
of
the
following
immunodeficiencies
:
Wiscott-
Aldrich
syndrome
,
X-
linked
hyper-
IgM
syndrome
(
HIGM
)
,
X-
linked
hypohidrotic
ectodermal
dysplasia
with
immune
deficiency
(
HED-
ID
)
,
ataxia
telangiectasia
and
Omenn
syndrome
,
resulting
in
the
transfer
of
unaffected
embryos
in
13
cycles
and
the
birth
of
seven
unaffected
children
,
with
one
healthy
pregnancy
ongoing
.
HLA-identical
stem
cells
from
some
of
these
children
have
been
used
for
transplantation
therapy
,
resulting
in
the
restoration
of
normal
function
in
siblings
with
HIGM
and
HED-
ID
.
Diseases
Validation
Diseases presenting
"and because hla-matched stem cell transplantation improves or completely restores the immune system"
symptom
omenn syndrome
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