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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
"deficient patients"
symptom
aniridia
classical phenylketonuria
congenital toxoplasmosis
erythropoietic protoporphyria
homocystinuria without methylmalonic aciduria
neonatal adrenoleukodystrophy
omenn syndrome
phenylketonuria
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
zellweger syndrome
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