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The expanding spectrum of human coronin 1A deficiency.
[severe combined immunodeficiency]
Since
the
first
discovery
of
coronin
in
the
amoeba
Dictyostelium
discoideum
,
remarkable
insights
have
been
gained
regarding
the
structure
and
function
of
coronins
,
highly
conserved
from
yeast
to
humans
.
It
has
been
speculated
that
coronins
have
evolved
from
actin-binding
molecules
in
lower
eukaryotes
to
regulators
of
various
cellular
processes
in
mammals
.
Indeed
,
coronins
are
not
only
involved
in
cytokinesis
,
cell
motility
,
and
other
actin-related
processes
but
they
are
also
implicated
in
immune
homeostasis
and
calcium
-calcineurin
signaling
.
Most
strikingly
,
coronin
1
deficiencies
give
rise
to
immune
deficiencies
in
mice
and
humans
that
are
characterized
by
severe
T
lymphocytopenia
.
Whereas
complete
absence
of
coronin
1
A
is
associated
with
severe
combined
immunodeficiency
in
humans
,
hypomorphic
mutations
lead
to
a
profound
defect
in
naïve
T
cells
,
expansion
of
oligoclonal
memory
T
cells
,
and
exquisite
susceptibility
to
EBV-associated
B
cell
lymphoproliferation
.
Recent
publications
show
that
coronin
1
A
also
plays
a
role
in
natural
killer
cell
cytotoxic
function
and
in
neurobehavioral
processes
.
It
can
be
expected
that
future
identification
of
coronin
1
A-
deficient
patients
will
further
extend
the
phenotypic
spectrum
thereby
increasing
our
knowledge
of
this
fascinating
molecule
.
Diseases
Validation
Diseases presenting
"first discovery"
symptom
severe combined immunodeficiency
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