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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
"immunodeficiency"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
cushing syndrome
dracunculiasis
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
kabuki syndrome
legionellosis
malignant atrophic papulosis
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
primary hyperoxaluria type 1
pyomyositis
severe combined immunodeficiency
sneddon syndrome
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated