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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
"immunodeficiency"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
cushing syndrome
dracunculiasis
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
kabuki syndrome
legionellosis
malignant atrophic papulosis
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
primary hyperoxaluria type 1
pyomyositis
severe combined immunodeficiency
sneddon syndrome
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated