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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
"hearing impairment"
symptom
22q11.2 deletion syndrome
achondroplasia
benign recurrent intrahepatic cholestasis
canavan disease
congenital diaphragmatic hernia
dentinogenesis imperfecta
hirschsprung disease
kabuki syndrome
kallmann syndrome
monosomy 21
oligodontia
pendred syndrome
zellweger syndrome
This symptom has already been validated