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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
"telangiectasia"
symptom
coats disease
cowden syndrome
cutaneous mastocytosis
hereditary cerebral hemorrhage with amyloidosis
kallmann syndrome
kindler syndrome
malignant atrophic papulosis
omenn syndrome
pendred syndrome
severe combined immunodeficiency
systemic capillary leak syndrome
triple a syndrome
waldenström macroglobulinemia
werner syndrome
This symptom has already been validated