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Necrotizing enterocolitis in an infant with Omenn syndrome.
[omenn syndrome]
Omenn
syndrome
(
OS
)
is
a
rare
disorder
within
the
combined
immunodeficiency
family
that
is
characterized
by
a
diffuse
exudative
,
erythematous
rash
,
lymphadenopathy
,
hepatosplenomegaly
,
alopecia
,
and
failure
to
thrive
.
Specific
lab
findings
unique
to
OS
include
hypereosinophilia
,
elevated
IgE
,
excess
production
of
oligoclonal
T
-
cells
and
near-
to
-
absent
B-
cells
.
Much
remains
elucidated
about
the
underlying
genetic
cause
of
OS
.
Until
recently
,
it
was
felt
that
the
disease
was
primarily
caused
by
mutations
of
the
RAG
1
or
RAG
2
genes
.
The
type
of
mutation
of
the
RAG
1
and
RAG
2
genes
in
patients
with
OS
affects
the
degree
of
functioning
variable
(
diversity
)
joining
[
V
(
D
)
J
]
recombination
activity
,
which
is
critical
to
the
development
of
lymphoid
cell
receptor
diversity
.
New
work
has
also
shown
that
thymic
tissue
in
OS
patients
demonstrates
a
severe
defect
in
the
expression
of
the
autoimmune
regulator
element
.
This
may
contribute
to
the
development
of
autoreactive
T
-
cells
that
are
felt
to
be
the
causative
agent
of
a
number
of
the
clinical
hallmarks
unique
to
OS
.
The
genetic
spectrum
of
OS
was
further
expanded
when
a
patient
with
clinical
and
immunologic
features
consistent
with
OS
,
without
RAG
mutation
,
was
found
to
have
mutations
in
both
alleles
coding
for
ARTEMIS
,
a
key
V
(
D
)
J
recombination
/
DNA
repair
factor
.
Regardless
of
the
underlying
cause
,
early
recognition
is
critical
because
patients
die
at
a
very
young
age
without
bone
marrow
transplantation
.
We
describe
an
infant
diagnosed
with
OS
post-mortem
in
which
death
was
directly
related
to
the
development
of
necrotizing
enterocolitis
.
Diseases
Validation
Diseases presenting
"mutation of the rag1 and rag2 genes in patients"
symptom
omenn syndrome
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