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Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations.
[omenn syndrome]
Hypomorphic
mutations
of
the
RAG
genes
in
humans
are
associated
with
a
spectrum
of
clinical
and
immunologic
presentations
that
range
from
T
(
-
)
B
(
-
)
severe
combined
immune
deficiency
(
SCID
)
to
Omenn
syndrome
.
In
most
cases
,
residual
V
(
D
)
J
recombination
activity
allows
for
development
of
few
T
-
cell
clones
,
which
expand
in
the
periphery
and
infiltrate
target
organs
,
resulting
in
tissue
damage
.
Invariant
natural
killer
T
(
iNKT
)
cells
play
an
important
immunoregulatory
role
and
have
been
associated
with
protection
against
autoimmunity
.
We
now
report
on
5
unrelated
cases
of
combined
immune
deficiency
due
to
hypomorphic
RAG
mutations
,
and
demonstrate
the
absence
of
iNKT
cells
in
all
5
patients
.
These
findings
suggest
that
lack
of
this
important
immunoregulatory
cell
population
may
contribute
to
the
pathophysiology
of
Omenn
syndrome
.