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Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias.
[omenn syndrome]
B
+
NK
+
SCID
(
severe
combined
immunodeficiency
)
due
to
IL
7
R
α
deficiency
represents
approximately
10
%
of
American
SCID
cases
.
To
better
understand
the
spectrum
of
autoimmune
disorders
associated
with
IL
7
R
α
deficiency
,
we
describe
two
unrelated
IL
7
R
α-
deficient
female
SCID
infants
whose
clinical
picture
was
dominated
by
autoimmune
manifestations
:
one
with
intrauterine
Omenn
syndrome
(
OS
)
and
another
with
persistent
thrombocytopenic
purpura
since
4
months
of
age
.
The
OS
baby
harbored
a
homozygous
p
.
C
118
Y
mutation
in
IL
7
R
.
She
presented
dense
eosinophilic
infiltrates
in
several
organs
,
including
pancarditis
,
which
may
have
contributed
to
her
death
(
on
the
2nd
day
of
life
)
.
B
cells
were
observed
in
lymph
nodes
,
spleen
,
bone
marrow
and
thymus
.
The
second
patient
harbored
compound
heterozygous
p
.
C
118
Y
and
p
.
I
121
NfsX
8
mutations
.
She
underwent
a
successful
unrelated
cord
blood
transplant
.
In
conclusion
,
early
OS
can
be
observed
in
patients
with
IL
7
R
mutations
,
and
autoimmune
cytopenias
could
also
complicate
the
clinical
course
of
SCID
babies
with
this
type
of
defect
.
Diseases
Validation
Diseases presenting
"thymus"
symptom
omenn syndrome
severe combined immunodeficiency
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