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A random Abstract
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Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency.
[omenn syndrome]
It
is
commonly
accepted
that
the
presence
of
high
amounts
of
maternal
T
cells
excludes
Omenn
syndrome
(
OS
)
in
severe
combined
immunodeficiency
(
SCID
)
.
We
report
a
SCID
patient
with
a
novel
mutation
in
the
recombination
activating
gene
(
RAG
)
1
gene
(
4
-
BP
DEL
.
1406
TTGC
)
who
presented
with
immunodeficiency
and
OS
.
Several
assays
,
including
representatives
of
specific
T
cell
receptors
(
TCR
)
,
Vβ
families
and
TCR-γ
rearrangements
,
were
performed
in
order
to
understand
more
clearly
the
nature
and
origin
of
the
patient
's
T
cells
.
The
patient
had
oligoclonal
T
cells
which
,
based
on
the
patient-mother
human
leucocyte
antigen
(
HLA
)
-
B
50
mismatch
,
were
either
autologous
or
of
maternal
origin
.
These
cell
populations
were
different
in
their
numbers
of
regulatory
T
cells
(
T
(
reg
)
)
and
the
diversity
of
TCR
repertoires
.
This
is
the
first
description
of
the
co
-existence
of
large
amounts
of
clonal
expanded
autologous
and
transplacental-acquired
maternal
T
cells
in
RAG
1
-
deficient
SCID
.
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