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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
"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
