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Advances in basic and clinical immunology in 2013.
[wiskott-aldrich syndrome]
A
significant
number
of
contributions
to
our
understanding
of
primary
immunodeficiencies
(
PIDs
)
in
pathogenesis
,
diagnosis
,
and
treatment
were
published
in
the
Journal
in
2013
.
For
example
,
deficiency
of
mast
cell
degranulation
caused
by
signal
transducer
and
activator
of
transcription
3
deficiency
was
demonstrated
to
contribute
to
the
difference
in
the
frequency
of
severe
allergic
reactions
in
patients
with
autosomal
dominant
hyper-
IgE
syndrome
compared
with
that
seen
in
atopic
subjects
with
similar
high
IgE
serum
levels
.
High
levels
of
nonglycosylated
IgA
were
found
in
patients
with
Wiskott-
Aldrich
syndrome
,
and
these
abnormal
antibodies
might
contribute
to
the
nephropathy
seen
in
these
patients
.
New
described
genes
causing
immunodeficiency
included
caspase
recruitment
domain
11
(
CARD
11
)
,
mucosa-associated
lymphoid
tissue
1
(
MALT
1
)
for
combined
immunodeficiencies
,
and
tetratricopeptide
repeat
domain
7
A
(
TTC
7
A
)
for
mutations
associated
with
multiple
atresia
with
combined
immunodeficiency
.
Other
observations
expand
the
spectrum
of
clinical
presentation
of
specific
gene
defects
(
eg
,
adult-onset
idiopathic
T
-
cell
lymphopenia
and
early
-onset
autoimmunity
might
be
due
to
hypomorphic
mutations
of
the
recombination-activating
genes
)
.
Newborn
screening
in
California
established
the
incidence
of
severe
combined
immunodeficiency
at
1
in
66
,
250
live
births
.
The
use
of
hematopoietic
stem
cell
transplantation
for
PIDs
was
reviewed
,
with
recommendations
to
give
priority
to
research
oriented
to
establish
the
best
regimens
to
improve
the
safety
and
efficacy
of
bone
marrow
transplantation
.
These
represent
only
a
fraction
of
significant
research
done
in
patients
with
PIDs
that
has
accelerated
the
quality
of
care
of
these
patients
.
Genetic
analysis
of
patients
has
demonstrated
multiple
phenotypic
expressions
of
immune
deficiency
in
patients
with
nearly
identical
genotypes
,
suggesting
that
additional
genetic
factors
,
possibly
gene
dosage
,
or
environmental
factors
are
responsible
for
this
diversity
.
Diseases
Validation
Diseases presenting
"specific gene defects"
symptom
wiskott-aldrich syndrome
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