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Autoimmune haematological disorders in two Italian children with Kabuki syndrome.
[kabuki syndrome]
Kabuki
syndrome
(
also
called
Niikawa-
Kuroki
syndrome
)
is
a
rare
genetic
disease
described
for
the
first
time
in
Japan
,
characterised
by
anomalies
in
multiple
organ
systems
and
often
associated
with
autoimmune
disorders
and
impaired
immune
response
.
We
herein
report
the
clinical
history
,
the
therapeutic
approach
and
the
outcome
of
two
children
with
Kabuki
syndrome
who
developed
autoimmune
haematological
disorders
(
haemolytic
anaemia
and
immune
thrombocytopenia
)
.
Factors
regarding
differential
diagnosis
and
interventions
in
better
management
of
this
syndrome
and
its
complications
are
discussed
.
This
is
the
first
report
of
Italian
children
with
autoimmune
haematological
disorders
complicating
Kabuki
syndrome
.
Diseases
Validation
Diseases presenting
"first report"
symptom
achondroplasia
alexander disease
aniridia
cadasil
canavan disease
child syndrome
cohen syndrome
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dedifferentiated liposarcoma
dentinogenesis imperfecta
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
esophageal squamous cell carcinoma
fabry disease
familial mediterranean fever
focal myositis
harlequin ichthyosis
hirschsprung disease
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
inclusion body myositis
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
lamellar ichthyosis
liposarcoma
lymphangioleiomyomatosis
monosomy 21
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
pendred syndrome
pleomorphic liposarcoma
primary hyperoxaluria type 1
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
werner syndrome
wiskott-aldrich syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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