Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"maternal origin"
symptom
canavan disease
monosomy 21
omenn syndrome
primary hyperoxaluria type 1
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom