Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection.
[omenn syndrome]
Amorphic
mutations
in
the
recombination
activating
genes
RAG
1
and
RAG
2
have
been
reported
to
cause
T
-
B-
SCID
,
whereas
hypomorphic
mutations
led
to
the
expansion
of
a
few
autoimmune
T
cell
clones
responsible
for
the
Omenn
syndrome
phenotype
.
We
report
here
a
novel
clinical
and
immunological
phenotype
associated
with
recessive
RAG
1
hypomorphic
mutations
in
4
patients
from
4
different
families
.
The
immunological
phenotype
consists
of
the
oligoclonal
expansion
of
TCR
gammadelta
T
cells
combined
with
TCR
alphabeta
T
cell
lymphopenia
.
The
clinical
phenotype
consists
of
severe
,
disseminated
CMV
infection
and
autoimmune
blood
cell
manifestations
.
Repertoire
studies
suggest
that
CMV
infection
,
in
the
setting
of
this
particular
T
cell
immunodeficiency
,
may
have
driven
the
TCR
gammadelta
T
cell
clonal
expansion
.
This
observation
extends
the
range
of
clinical
and
immunological
phenotypes
associated
with
RAG
mutations
,
emphasizing
the
role
of
the
genetic
background
and
microbial
environment
in
determining
disease
phenotype
.
Diseases
Validation
Diseases presenting
"emphasizing the role of the genetic background and microbial environment in determining disease phenotype"
symptom
omenn syndrome
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom