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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
"immunodeficiency"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
cushing syndrome
dracunculiasis
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
kabuki syndrome
legionellosis
malignant atrophic papulosis
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
primary hyperoxaluria type 1
pyomyositis
severe combined immunodeficiency
sneddon syndrome
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated