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A Novel WASP Gene Mutation in a Chinese Boy with Wiskott-Aldrich Syndrome.
[wiskott-aldrich syndrome]
Wiskott-
Aldrich
syndrome
(
WAS
)
is
a
rare
inherited
X-
linked
recessive
immunodeficiency
disease
characterized
by
eczema
,
thrombocytopenia
,
immune
deficiency
,
and
bloody
diarrhea
and
is
caused
by
WASP
gene
mutations
.
This
study
reports
a
case
of
WAS
with
a
novel
mutation
.
A
newborn
Chinese
infant
was
admitted
to
the
hospital
because
of
intermittent
bloody
stools
,
recurrent
infections
,
and
persistent
thrombocytopenia
.
Genetic
analysis
of
the
coding
sequences
and
flanking
splice
sites
of
the
WASP
gene
showed
a
novel
WASP
gene
deletion
mutation
(
1144
delA
)
at
exon
10
.
Family
history
showed
that
both
his
mother
and
aunt
had
a
heterozygous
genotype
of
the
WASP
gene
.
The
infant
died
at
the
age
of
4
months
due
to
persistent
thrombocytopenia
and
severe
pneumonia
.
A
novel
WASP
gene
deletion
(
1144
delA
)
at
exon
10
was
identified
in
a
Chinese
infant
with
WAS
.
This
base
deletion
results
in
a
frame-shift
mutation
of
the
gene
for
an
early
stop
codon
at
amino
acid
444
.
Diseases
Validation
Diseases presenting
"immunodeficiency"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
cushing syndrome
dracunculiasis
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
kabuki syndrome
legionellosis
malignant atrophic papulosis
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
primary hyperoxaluria type 1
pyomyositis
severe combined immunodeficiency
sneddon syndrome
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated