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RAG1 reversion mosaicism in a patient with omenn syndrome.
[omenn syndrome]
To
identify
mechanisms
of
disease
in
a
child
born
to
consanguineous
parents
,
who
presented
with
Omenn
syndrome
(
OS
)
and
was
found
to
carry
a
heterozygous
RAG
1
mutation
in
peripheral
blood
DNA
.
Mutation
analysis
was
performed
on
whole
blood
and
buccal
swab
DNA
.
Recombination
activity
of
the
mutant
RAG
1
protein
and
diversity
of
T
cell
repertoire
were
tested
.
Apparent
heterozygosity
for
a
novel
,
functionally
null
RAG
1
mutation
in
peripheral
blood
DNA
from
a
patient
with
OS
was
shown
to
be
secondary
to
true
somatic
reversion
.
Analysis
of
T
cell
repertoire
demonstrated
expression
of
various
TCRBV
families
,
but
an
overall
restricted
pattern
.
This
is
the
first
case
of
true
somatic
reversion
of
a
RAG
1
mutation
in
a
patient
with
OS
.
The
reversion
event
likely
occurred
at
a
stage
where
only
a
limited
pool
of
T
cell
progenitors
capable
of
performing
V
(
D
)
J
recombination
could
be
generated
.
This
work
emphasizes
the
importance
of
performing
functional
studies
to
investigate
the
significance
of
novel
genetic
variants
,
and
to
consider
somatic
reversion
as
a
possible
disease
modifier
in
SCID
.
Diseases
Validation
Diseases presenting
"first case"
symptom
achondroplasia
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
child syndrome
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
esophageal adenocarcinoma
esophageal carcinoma
fabry disease
familial mediterranean fever
focal myositis
gm1 gangliosidosis
harlequin ichthyosis
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
locked-in syndrome
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
systemic capillary leak syndrome
thoracic outlet syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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