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A random Abstract
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Highly variable clinical phenotypes of hypomorphic RAG1 mutations.
[omenn syndrome]
Hypomorphic
mutations
that
lead
to
"
leaky
"
severe
combined
immunodeficiency
presentation
with
partial
protein
function
are
increasingly
being
identified
.
Mutations
in
recombination-activating
genes
(
RAGs
)
1
and
2
cause
immunodeficiency
and
dysregulation
ranging
from
severe
combined
immunodeficiency
to
Omenn
syndrome
to
more
mild
immunodeficiencies
.
We
report
here
the
cases
of
3
patients
with
hypomorphic
RAG
1
mutations
with
distinct
presentations
.
One
patient
had
granulomatous
skin
disease
and
disseminated
nontuberculous
mycobacteria
;
the
second
patient
presented
with
predominantly
autoimmune
manifestations
;
and
the
third
patient
presented
with
relatively
late
onset
of
infections
and
had
isolated
T
-
cell
lymphopenia
.
These
disparate
and
atypical
presentations
of
hypomorphic
RAG
1
mutations
highlight
the
role
of
RAG
1
in
immune
function
and
autoimmunity
and
expand
the
disease
spectrum
linked
to
these
genes
.
Diseases
Validation
Diseases presenting
"skin disease"
symptom
child syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
harlequin ichthyosis
junctional epidermolysis bullosa
kindler syndrome
lamellar ichthyosis
omenn syndrome
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