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Hematopoietic stem cell transplantation for CD3δ deficiency.
[omenn syndrome]
CD
3
δ
deficiency
is
a
fatal
form
of
severe
combined
immunodeficiency
that
can
be
cured
by
hematopoietic
stem
cell
transplantation
(
HSCT
)
.
The
presence
of
a
thymus
loaded
with
T
-
cell
progenitors
in
patients
with
CD
3
δ
deficiency
may
require
special
considerations
in
choosing
the
regimen
of
conditioning
and
the
type
of
HSCT
.
To
study
the
outcome
of
CD
3
δ
deficiency
by
using
various
modalities
of
stem
cell
transplantation
.
We
analyzed
data
on
13
patients
with
CD
3
δ
deficiency
who
underwent
HSCT
in
7
centers
.
HSCT
was
performed
by
using
different
sources
of
donor
stem
cells
as
well
as
various
conditioning
regimens
.
One
patient
received
stem
cells
from
a
matched
related
donor
and
survived
after
a
second
transplant
,
needing
substantial
conditioning
in
order
to
engraft
.
Only
2
of
7
other
patients
who
received
a
mismatched
related
donor
transplant
survived
;
2
of
them
had
no
conditioning
,
whereas
the
others
received
various
combinations
of
conditioning
regimens
.
Engraftment
of
T
cells
in
the
survivors
appears
incomplete
.
Three
other
patients
who
received
stem
cells
from
a
matched
unrelated
donor
survived
and
enjoyed
full
immune
reconstitution
.
Two
patients
received
unrelated
cord
blood
without
conditioning
.
One
of
them
has
had
a
partial
but
stable
engraftment
,
whereas
the
other
engrafted
well
but
is
only
12
months
after
HSCT
.
We
also
report
here
for
the
first
time
that
patients
with
CD
3
δ
deficiency
can
present
with
typical
features
of
Omenn
syndrome
.
HSCT
is
a
successful
treatment
for
patients
with
CD
3
δ
deficiency
.
The
small
number
of
patients
in
this
report
prevents
definitive
statements
on
the
importance
of
survival
factors
,
but
several
are
suggested
:
(
1
)
HLA-matched
donor
transplants
are
associated
with
superior
reconstitution
and
survival
than
are
mismatched
donor
transplants
;
(
2
)
substantial
conditioning
appears
necessary
;
and
(
3
)
early
diagnosis
and
absence
of
opportunistic
infections
may
affect
outcome
.
Diseases
Validation
Diseases presenting
"early diagnosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
locked-in syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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