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Omenn syndrome: inflammation in leaky severe combined immunodeficiency.
[omenn syndrome]
Omenn
syndrome
(
OS
)
was
reported
until
recently
as
a
distinct
form
(
phenotype
and
genotype
)
of
severe
combined
immunodeficiency
(
SCID
)
.
Similar
to
other
patients
with
SCID
,
patients
with
OS
present
early
in
infancy
with
viral
or
fungal
pneumonitis
,
chronic
diarrhea
,
and
failure
to
thrive
.
Unlike
typical
SCID
,
patients
with
OS
have
enlarged
lymphoid
tissue
,
severe
erythroderma
,
increased
IgE
levels
,
and
eosinophilia
.
The
inflammation
observed
in
these
patients
is
believed
to
be
triggered
by
clonally
expanded
T
cells
,
which
are
predominantly
of
the
T
(
H
)
2
type
.
These
abnormal
T
cells
,
in
the
absence
of
proper
regulation
by
other
components
of
the
immune
system
,
secrete
a
host
of
cytokines
that
promote
autoimmune
as
well
as
allergic
inflammation
.
The
emergence
of
these
T
-
cell
clones
occurs
in
patients
with
hypomorphic
mutations
in
recombination
activating
gene
1
or
2
,
but
not
in
patients
with
deleterious
mutations
in
these
enzymes
which
render
them
inactive
.
Recently
,
OS
was
also
identified
in
a
growing
list
of
other
leaky
SCIDs
with
mutations
in
RNA
component
of
mitochondrial
RNA
processing
endoribonuclease
,
adenosine
deaminase
,
IL
-
2
receptor
gamma
,
IL
-
7
receptor
alpha
,
ARTEMIS
,
and
DNA
ligase
4
.
This
new
information
revealed
OS
is
a
distinct
inflammatory
process
that
can
be
associated
with
genetically
diverse
leaky
SCIDS
.
Diseases
Validation
Diseases presenting
"in the absence of proper regulation by other components of the immune system"
symptom
omenn syndrome
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