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Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause Omenn-like syndrome.
[omenn syndrome]
More
than
11
genetic
causes
of
severe
combined
immunodeficiency
(
SCID
)
have
been
identified
,
affecting
development
and
/
or
function
of
T
lymphocytes
,
and
sometimes
B
lymphocytes
and
natural
killer
(
NK
)
cells
.
Deletion
of
22
q
11
.
2
is
associated
with
immunodeficiency
,
although
less
than
1
%
of
cases
are
associated
with
T
-B
+
NK
+
SCID
phenotype
.
Severe
immunodeficiency
with
CHARGE
syndrome
has
been
noted
only
rarely
Omenn
syndrome
is
a
rare
autosomal
recessive
form
of
SCID
with
erythroderma
,
hepatosplenomegaly
,
lymphadenopathy
and
alopecia
.
Hypomorphic
recombination
activating
genes
1
and
2
mutations
were
first
described
in
patients
with
Omenn
syndrome
.
More
recently
,
defects
in
Artemis
,
RMRP
,
IL
7
Ralpha
and
common
gamma
chain
genes
have
been
described
.
We
describe
four
patients
with
mutations
in
CHD
7
,
who
had
clinical
features
of
CHARGE
syndrome
and
who
had
T
-B
+
NK
+
SCID
(
two
patients
)
or
clinical
features
consistent
with
Omenn
syndrome
(
two
patients
)
.
Immunodeficiency
in
patients
with
DiGeorge
syndrome
is
well
recognized--
CHARGE
syndrome
should
now
be
added
to
the
causes
of
T
-B
+
NK
+
SCID
,
and
mutations
in
the
CHD
7
gene
may
be
associated
with
Omenn-like
syndrome
.
Diseases
Validation
Diseases presenting
"although less than 1%"
symptom
omenn syndrome
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