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Linkage of autosomal dominant common variable immunodeficiency to chromosome 5p and evidence for locus heterogeneity.
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Common
variable
immunodeficiency
(
CVID
,
OMIM
240500
)
and
selective
immunoglobulin
A
deficiency
(
IgAD
)
are
the
most
frequent
primary
immunodeficiencies
in
humans
.
Of
the
cases
with
CVID
/
IgAD
,
20
%
-
25
%
are
familial
,
but
the
only
previous
claims
of
linkage
or
association
are
to
the
HLA
region
on
chromosome
6
p
.
We
report
the
results
of
a
genome-
wide
scan
in
three
multiplex
families
with
CVID
,
IgAD
,
and
dysgammaglobulinemia
,
where
affection
is
inherited
in
an
autosomal
dominant
pattern
.
Two
of
the
families
are
consistent
with
linkage
to
the
telomeric
region
of
chromosome
5
p
,
whereas
the
third
is
consistent
with
linkage
to
the
HLA
region
.
Using
a
locus
heterogeneity
model
and
a
conservative
penetrance
model
,
we
obtained
a
LOD
score
of
3
.
35
for
the
5
p
region
.
We
sequenced
the
exons
of
one
promising
candidate
gene
within
this
region
(
PDCD
6
,
also
known
as
ALG
-
2
)
but
found
no
causative
mutation
.
