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Saving the red baby: successful allogeneic cord blood transplantation in Omenn syndrome.
[omenn syndrome]
Haematopoietic
stem
cell
transplantation
is
the
treatment
of
choice
for
severe
primary
immunodeficiencies
,
but
only
has
moderate
prognosis
in
Omenn
syndrome
as
it
is
complicated
by
highly
activated
Omenn
T
-
cells
resulting
in
delayed
T
-
cell
engraftment
and
a
high
rate
of
graft
failure
.
A
6
1
/
2
months
old
patient
with
a
previously
unknown
compound
heterozygous
defect
within
the
RAG
1
gene
(
R
474
C
;
R
975
W
)
underwent
8
/
10
HLA-matched
cord
blood
transplantation
after
myeloablative
conditioning
.
Immune
reconstitution
was
impressive
with
T
-
,
B-
and
NK-cells
reaching
the
median
of
age-dependent
reference
values
within
twelve
,
four
and
two
months
respectively
.
With
a
continuous
decrease
of
activated
Omenn
T
-
cells
there
was
a
steady
increase
of
naive
,
probably
thymus-derived
T
-
cells
.
Polyclonal
B-
cell
activation
and
hypergammaglobulinaemia
disappeared
with
B-
cell
engraftment
.
This
case
emphasizes
that
,
despite
their
naive
status
and
HLA-barriers
,
cord
blood
T
-
cells
were
apparently
able
to
achieve
T
-
effector
function
resulting
in
the
elimination
of
all
activated
Omenn
T
-
cells
.