Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
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
"critical differences exist between species that necessitate the direct study of human cells"
symptom
severe combined immunodeficiency
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom