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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
"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