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From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family.
[omenn syndrome]
Mutations
in
RAG
genes
cause
a
spectrum
of
severe
immunodeficiencies
ranging
from
Severe
Combined
Immunodeficiency
(
SCID
)
T
-B-NK
+
to
Omenn
syndrome
(
OS
)
through
intermediate
phenotypes
,
even
for
the
same
alteration
.
Nowadays
,
hematopoietic
stem
cell
transplantation
(
HSCT
)
is
the
unique
curative
treatment
available
.
We
describe
three
related
patients
from
a
Moroccan
consanguineous
family
.
Patient
1
developed
at
1
month
of
age
moderate
eczematous
dermatitis
with
eosinophilia
,
followed
by
infections
and
enteritis
.
He
was
transplanted
and
received
reduced
intensity
conditioning
regimen
previous
to
HSCT
.
His
brother
,
patient
2
,
was
born
preterm
with
a
severe
neonatal
erythroderma
,
hepatosplenomegaly
and
lymphadenopathy
.
Patient
3
,
cousin
of
the
two
siblings
,
was
also
born
preterm
and
fulfilled
all
criteria
for
classical
OS
.
Immunological
evaluation
was
performed
and
RAG
genes
were
sequenced
.
Immunological
data
from
all
three
patients
were
very
diversed
,
from
T
lymphopenia
to
marked
lymphocytosis
,
and
different
degrees
of
eosinophilia
and
IgE
levels
.
Non-responder
T
cells
and
absent
B
cells
were
constant
.
All
patients
presented
the
same
homozygous
mutation
in
RAG
1
gene
(
c
.
631
delT
)
.
Patient
1
fully
recovered
both
clinically
and
immunologically
after
HSCT
.
Two
years
later
,
he
lost
the
accomplished
lymphoid
chimera
and
the
disease
relapsed
as
a
classical
OS
,
leading
to
patient
's
death
.
This
is
the
first
report
of
a
RAG
1
deficient
patient
with
a
changed
clinical
and
immunological
phenotype
from
SCID
to
OS
after
HSCT
.
The
use
of
a
myeloablative
conditioning
regimen
that
eliminates
reminiscent
T
cells
might
have
improved
patient
's
outcome
and
it
should
be
considered
in
similar
cases
.
Diseases
Validation
Diseases presenting
"severe immunodeficiencies"
symptom
omenn syndrome
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