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Human lymphoid development in the absence of common γ-chain receptor signaling.
[severe combined immunodeficiency]
Despite
the
power
of
model
systems
to
reveal
basic
immunologic
mechanisms
,
critical
differences
exist
between
species
that
necessitate
the
direct
study
of
human
cells
.
Illustrating
this
point
is
the
difference
in
phenotype
between
patients
with
SCID
caused
by
mutations
affecting
the
common
γ-chain
(
γc
)
cytokine
signaling
pathway
and
mice
with
similar
mutations
.
Although
in
both
species
,
null
mutations
in
either
IL
-
2
RG
(
which
encodes
γc
)
,
or
its
direct
downstream
signaling
partner
JAK
3
,
result
in
T
and
NK
cell
deficiency
,
an
associated
B
cell
deficiency
is
seen
in
mice
but
not
in
humans
with
these
genetic
defects
.
In
this
study
,
we
applied
recent
data
that
have
revised
our
understanding
of
the
earliest
stages
of
lymphoid
commitment
in
human
bone
marrow
(
BM
)
to
determine
the
requirement
for
signaling
through
IL
-
2
RG
and
JAK
3
in
normal
development
of
human
lymphoid
progenitors
.
BM
samples
from
SCID
patients
with
IL
-
2
RG
(
n
=
3
)
or
JAK
3
deficiency
(
n
=
2
)
,
which
produce
similar
"
T
-NK-B
+
"
clinical
phenotypes
,
were
compared
with
normal
BM
and
umbilical
cord
blood
as
well
as
BM
from
children
on
enzyme
treatment
for
adenosine
deaminase
-
deficient
SCID
(
n
=
2
)
.
In
both
IL
-
2
RG
-
and
JAK
3
-
SCID
patients
,
the
early
stages
of
lymphoid
commitment
from
hematopoietic
stem
cells
were
present
with
development
of
lymphoid-primed
multipotent
progenitors
,
common
lymphoid
progenitors
and
B
cell
progenitors
,
normal
expression
patterns
of
IL
-
7
RA
and
TLSPR
,
and
the
DNA
recombination
genes
DNTT
and
RAG
1
.
Thus
,
in
humans
,
signaling
through
the
γc
pathway
is
not
required
for
prethymic
lymphoid
commitment
or
for
DNA
rearrangement
.
Diseases
Validation
Diseases presenting
"nk cell deficiency"
symptom
severe combined immunodeficiency
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