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Omenn syndrome--review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan.
[omenn syndrome]
Omenn
syndrome
(
OS
)
is
a
form
of
severe
combined
immunodeficiency
(
SCID
)
characterized
by
erythrodermia
,
hepatosplenomegaly
,
lymphadenopathy
,
and
alopecia
.
In
patients
with
OS
,
B
cells
are
mostly
absent
,
T
-
cell
counts
are
normal
to
elevated
,
and
T
cells
are
frequently
activated
and
express
a
restricted
T
-
cell
receptor
(
TCR
)
repertoire
.
Thus
far
,
inherited
hypomorphic
mutations
of
the
recombination
activating
genes
either
1
or
2
(
RAG
1
/
2
)
have
been
detected
in
most
OS
patients
.
We
have
recently
experienced
a
rare
case
of
OS
showing
the
revertant
mosaicism
due
to
multiple
second
-site
mutations
leading
to
typical
OS
clinical
features
with
RAG
1
-
deficient
SCID
.
In
this
review
,
we
will
focus
on
the
variation
of
several
phenotypes
of
OS
.
Diseases
Validation
Diseases presenting
"alopecia"
symptom
cadasil
congenital adrenal hyperplasia
cutaneous mastocytosis
epidermolysis bullosa simplex
harlequin ichthyosis
junctional epidermolysis bullosa
lamellar ichthyosis
oligodontia
omenn syndrome
pleomorphic liposarcoma
proteus syndrome
werner syndrome
This symptom has already been validated