Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Immunologic assessment and KMT2D mutation detection in Kabuki syndrome.
[kabuki syndrome]
Kabuki
or
Niikawa-
Kuroki
syndrome
(
KS
)
is
a
rare
disorder
with
multiple
malformations
and
recurrent
infections
,
especially
otitis
media
.
This
study
aimed
to
investigate
the
genetic
defects
in
Kabuki
syndrome
and
determine
if
immune
status
is
related
to
recurrent
otitis
media
.
Fourteen
patients
from
12
unrelated
families
were
enrolled
in
the
9
-
year
study
period
(
2005
-
2013
)
.
All
had
Kabuki
faces
,
cleft
palate
,
developmental
delay
,
mental
retardation
,
and
the
short
fifth
finger
.
Recurrent
otitis
media
(
12
/
14
)
and
hearing
impairment
(
8
/
14
)
were
also
more
common
features
.
Immunologic
analysis
revealed
lower
memory
CD
19
+
cells
(
11
/
13
)
,
lower
memory
CD
4
+
cells
(
8
/
13
)
,
undetectable
anti-
HBs
antibodies
(
7
/
13
)
,
and
antibody
deficiency
(
7
/
13
)
,
including
lower
IgA
(
4
)
,
IgG
(
2
)
,
and
IgG
2
(
1
)
.
Naïve
emigrant
lymphocytes
,
lymphocyte
proliferation
function
,
complement
activity
,
and
superoxide
production
in
polymorphonuclear
cells
were
all
normal
.
All
the
patients
had
KMT
2
D
mutations
and
10
novel
mutations
of
R
1252
X
,
R
1757
X
,
Y
1998
C
,
P
2550
R
fs
2
604
X
,
Q
4013
X
,
G
5379
X
,
E
5425
K
,
R
5432
X
,
R
5432
W
,
and
R
5500
W
.
Resembling
the
phenotype
of
common
variable
immunodeficiency
,
KS
patients
with
antibody
deficiency
,
decreased
memory
cells
,
and
poor
vaccine
response
increased
susceptibility
to
recurrent
otitis
media
.
Large
-scale
prospective
studies
are
warranted
to
determine
if
regular
immunoglobulin
supplementation
decreases
the
frequency
of
otitis
media
and
severity
of
hearing
impairment
.
Diseases
Validation
Diseases presenting
"especially otitis media"
symptom
kabuki syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom