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X-linked severe combined immunodeficiency due to a novel mutation complicated with hemophagocytic lymphohistiocytosis and presented with invagination: A case report.
[severe combined immunodeficiency]
Severe
combined
immunodeficiency
(
SCID
)
is
an
inherited
disease
with
profoundly
defective
T
cells
,
B
cells
,
and
natural
killer
(
NK
)
cells
.
X-
linked
SCID
(
X-
SCID
)
is
its
most
common
form
.
In
this
report
,
we
describe
a
4
-
month
-old
male
with
X-
SCID
who
presented
invagination
and
also
showed
hemophagocytic
lymphohistiocytosis
(
HLH
)
.
The
patient
was
admitted
to
our
hospital
with
fever
,
cough
,
vomiting
,
monoliasis
,
and
hepatosplenomegaly
in
postoperative
period
at
the
age
of
3
months
.
The
laboratory
finding
revealed
no
detectable
T
cells
and
hypogammaglobulinemia
despite
normal
B-
cell
counts
.
Diagnosis
of
X-
SCID
was
established
by
DNA
analysis
of
the
interleukin
(
IL
)
-
2
receptor
gamma
chain
gene
(
IL
2
RG
)
;
namely
,
we
detected
the
novel
mutation
in
the
splice-site
of
exon
5
(
c
.
595
-
1
G
>
T
)
.
The
patient
died
due
to
infection
at
the
age
of
4
months
.
Also
,
this
case
is
the
first
report
that
describes
the
patient
with
X-
SCID
with
presented
invagination
.
Diseases
Validation
Diseases presenting
"common form"
symptom
achondroplasia
alexander disease
benign recurrent intrahepatic cholestasis
cadasil
child syndrome
classical phenylketonuria
cutaneous mastocytosis
erythropoietic protoporphyria
familial mediterranean fever
hereditary cerebral hemorrhage with amyloidosis
hodgkin lymphoma, classical
holt-oram syndrome
homocystinuria without methylmalonic aciduria
oral submucous fibrosis
pendred syndrome
primary hyperoxaluria type 1
severe combined immunodeficiency
thoracic outlet syndrome
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