Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.
[severe combined immunodeficiency]
Coronin-
1
A
deficiency
is
a
recently
recognized
autosomal
recessive
primary
immunodeficiency
caused
by
mutations
in
CORO
1
A
(
OMIM
605000
)
that
results
in
T
-
cell
lymphopenia
and
is
classified
as
T
(
-
)
B
(
+
)
NK
(
+
)
severe
combined
immunodeficiency
(
SCID
)
.
Only
two
other
CORO
1
A
-
kindred
are
known
to
date
,
thus
the
defining
characteristics
are
not
well
delineated
.
We
identified
a
unique
CORO
1
A
-
kindred
.
We
captured
a
10
-
year
analysis
of
the
immune-clinical
phenotypes
in
two
affected
siblings
from
disease
debut
of
age
7
years
.
Target
-
specific
genetic
studies
were
pursued
but
unrevealing
.
Telomere
lengths
were
also
assessed
.
Whole
exome
sequencing
(
WES
)
uncovered
the
molecular
diagnosis
and
Western
blot
validated
findings
.
We
found
the
compound
heterozygous
CORO
1
A
variants
:
c
.
248
_
249
delCT
(
p
.
P
83
RfsX
10
)
and
a
novel
mutation
c
.
1077
delC
(
p
.
Q
360
RfsX
44
)
(
NM
_
007074
.
3
)
in
two
affected
non-consanguineous
siblings
that
manifested
as
absent
CD
4
CD
4
5
RA
(
+
)
(
naïve
)
T
and
memory
B
cells
,
low
NK
cells
and
abnormally
increased
double
-negative
(
DN
)
ϒδ
T
-
cells
.
Distinguishing
characteristics
were
late
clinical
debut
with
an
unusual
mucocutaneous
syndrome
of
epidermodysplasia
verruciformis
-human
papilloma
virus
(
EV
-HPV
)
,
molluscum
contagiosum
and
oral
-
cutaneous
herpetic
ulcers
;
the
older
female
sibling
also
had
a
disfiguring
granulomatous
tuberculoid
leprosy
.
Both
had
bilateral
bronchiectasis
and
the
female
died
of
EBV
+
lymphomas
at
age
16
years
.
The
younger
surviving
male
,
without
malignancy
,
had
reproducibly
very
short
telomere
lengths
,
not
before
appreciated
in
CORO
1
A
mutations
.
We
reveal
the
third
CORO
1
A
-
mutated
kindred
,
with
the
immune
phenotype
of
abnormal
naïve
CD
4
and
DN
T
-
cells
and
newfound
characteristics
of
a
late
/
hypomorphic-like
SCID
of
an
EV
-HPV
mucocutaneous
syndrome
with
also
B
and
NK
defects
and
shortened
telomeres
.
Our
findings
contribute
to
the
elucidation
of
the
CORO
1
A
-
SCID
-
CID
spectrum
.
Diseases
Validation
Diseases presenting
"severe combined immunodeficiency"
symptom
achondroplasia
alpha-thalassemia
child syndrome
cholangiocarcinoma
junctional epidermolysis bullosa
krabbe disease
omenn syndrome
severe combined immunodeficiency
wiskott-aldrich syndrome
This symptom has already been validated