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A random Abstract
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Variable phenotypic expression of mutations in genes of the immune system.
[omenn syndrome]
Discovery
of
mutated
genes
that
cause
various
types
of
primary
immunodeficiencies
has
significantly
advanced
our
understanding
of
the
pathogenesis
of
these
diseases
and
of
the
functions
of
normal
gene
products
.
However
,
it
is
becoming
abundantly
clear
that
the
phenotypic
presentation
of
mutations
in
a
given
gene
can
be
quite
different
,
depending
upon
the
location
and
type
of
mutation
but
also
probably
upon
other
genetic
factors
and
environmental
influences
.
In
this
issue
of
the
JCI
,
de
Villartay
et
al
.
describe
a
third
phenotype
for
mutations
in
recombination
activating
gene
1
(
RAG
1
)
,
in
addition
to
the
already
known
phenotypes
of
SCID
and
Omenn
syndrome
(
see
the
related
article
beginning
on
page
3291
)
.
