Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Omenn syndrome in an infant with IL7RA gene mutation.
[omenn syndrome]
Omenn
syndrome
(
OS
)
is
a
rare
combined
immunodeficiency
characterized
by
erythroderma
,
lymphadenopathy
,
and
autoimmune
manifestations
.
Most
cases
are
due
to
mutations
in
the
RAG
genes
.
We
report
a
case
of
OS
due
to
mutations
of
IL
7
RA
,
thus
defining
Omenn
syndrome
as
a
genetically
heterogeneous
condition
.
