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Clinical, laboratory and molecular signs of immunodeficiency in patients with partial oculo-cutaneous albinism.
[oculocutaneous albinism]
Hypopigmentation
disorders
that
are
associated
with
immunodeficiency
feature
both
partial
albinism
of
hair
,
skin
and
eyes
together
with
leukocyte
defects
.
These
disorders
include
Chediak
Higashi
(
CHS
)
,
Griscelli
(
GS
)
,
Hermansky-
Pudlak
(
HPS
)
and
MAPBP-interacting
protein
deficiency
syndromes
.
These
are
heterogeneous
autosomal
recessive
conditions
in
which
the
causal
genes
encode
proteins
with
specific
roles
in
the
biogenesis
,
function
and
trafficking
of
secretory
lysosomes
.
In
certain
specialized
cells
,
these
organelles
serve
as
a
storage
compartment
.
Impaired
secretion
of
specific
effector
proteins
from
that
intracellular
compartment
affects
biological
activities
.
In
particular
,
these
intracellular
granules
are
essential
constituents
of
melanocytes
,
platelets
,
granulocytes
,
cytotoxic
T
lymphocytes
(
CTLs
)
and
natural
killer
(
NK
)
cells
.
Thus
,
abnormalities
affect
pigmentation
,
primary
hemostasis
,
blood
cell
counts
and
lymphocyte
cytotoxic
activity
against
microbial
pathogens
.
Among
eight
genetically
distinct
types
of
HPS
,
only
type
2
is
characterized
by
immunodeficiency
.
Recently
,
a
new
subtype
,
HPS
9
,
was
defined
in
patients
presenting
with
immunodeficiency
and
oculocutaneous
albinism
,
associated
with
mutations
in
the
pallidin-encoding
gene
,
PLDN
.
Hypopigmentation
together
with
recurrent
childhood
bacterial
or
viral
infections
suggests
syndromic
albinism
.
T
and
NK
cell
cytotoxicity
are
generally
impaired
in
patients
with
these
disorders
.
Specific
clinical
and
biochemical
phenotypes
can
allow
differential
diagnoses
among
these
disorders
before
molecular
testing
.
Ocular
symptoms
,
including
nystagmus
,
that
are
usually
evident
at
birth
,
are
common
in
patients
with
HPS
2
or
CHS
.
Albinism
with
short
stature
is
unique
to
MAPBP-interacting
protein
(
MAPBPIP
)
deficiency
,
while
hemophagocytic
lymphohistiocytosis
(
HLH
)
mainly
suggests
a
diagnosis
of
CHS
or
GS
type
2
(
GS
2
)
.
Neurological
disease
is
a
long
-term
complication
of
CHS
,
but
is
uncommon
in
other
syndromic
albinism
.
Chronic
neutropenia
is
a
feature
of
HPS
2
and
MAPBPIP-
deficiency
syndrome
,
whereas
it
is
usually
transient
in
CHS
and
GS
2
.
In
every
patient
,
an
accurate
diagnosis
is
required
for
prompt
and
appropriate
treatment
,
particularly
in
patients
who
develop
HLH
or
in
whom
bone
marrow
transplant
is
required
.
This
review
describes
the
molecular
and
pathogenetic
mechanisms
of
these
diseases
,
focusing
on
clinical
and
biochemical
aspects
that
allow
early
differential
diagnosis
.
Diseases
Validation
Diseases presenting
"partial albinism"
symptom
oculocutaneous albinism
This symptom has already been validated