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More than just SCID--the phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2.
[omenn syndrome]
Combined
immunodeficiencies
with
impaired
numbers
and
function
of
T
-
and
B-
cells
can
be
attributed
to
defects
in
the
recombinase
activating
genes
(
RAG
)
.
The
products
of
these
genes
,
the
RAG
1
and
2
proteins
,
are
key
players
in
the
V
(
D
)
J
recombination
process
leading
to
the
assembly
of
antigen
receptor
genes
.
Complete
RAG
deficiency
(
RAGD
)
with
no
V
(
D
)
J
(
<
1
%
recombination
activity
of
wild
type
)
is
associated
with
classical
SCID
and
absence
of
T
-
and
B-
cells
.
In
RAGD
with
residual
V
(
D
)
J
activity
(
>
1
%
recombination
activity
of
wild
type
)
,
several
clinical
and
immunological
subtypes
have
been
described
:
RAGD
with
skin
inflammation
and
alphabeta
T
-
cell
expansion
(
classical
Omenn
syndrome
)
,
RAGD
with
skin
inflammation
and
without
T
-
cell
expansion
(
incomplete
Omenn
syndrome
)
,
RAGD
with
gammadelta
T
-
cell
expansion
and
RAGD
with
granulomas
.
Engraftment
of
maternal
T
-
cells
can
add
to
variation
in
phenotype
.
The
potential
role
of
epigenetic
factors
that
influence
the
emergence
of
these
phenotypes
is
discussed
.
Thorough
assessment
and
interpretation
of
clinical
and
immunological
findings
will
guide
treatment
modalities
as
intense
as
hematopoietic
stem
cell
transplantation
.
Diseases
Validation
Diseases presenting
"skin inflammation"
symptom
hirschsprung disease
omenn syndrome
This symptom has already been validated