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Omenn syndrome: two case reports.
[omenn syndrome]
Omenn
syndrome
is
a
variant
of
combined
severe
immunodeficiency
due
to
mutations
in
RAG
genes
.
It
is
characterized
by
polymorph
symptoms
and
lethal
outcome
.
We
report
on
two
cases
of
Omenn
syndrome
.
Infants
were
aged
50
and
46
days
.
The
clinical
and
biological
signs
were
typical
and
complete
in
the
first
case
.
In
the
second
case
,
only
the
cutaneous
signs
were
present
.
Diagnosis
was
confirmed
by
genetic
study
.
The
Rag
1
T
631
mutation
was
found
in
these
two
patients
.
Hematopoietic
stem
cell
transplantation
could
not
be
done
and
the
evolution
was
fatal
in
both
cases
because
of
severe
infectious
episodes
.
Prenatal
diagnosis
was
performed
in
the
two
families
and
each
family
has
currently
a
healthy
child
.
In
conclusion
,
early
diagnosis
of
Omenn
syndrome
may
avoid
infectious
complications
responsible
for
delay
in
therapeutic
management
.
Genetic
study
confirms
the
diagnosis
.
The
treatment
usually
consists
of
hematopoietic
stem
cell
transplantation
in
association
with
immunosuppressive
drugs
.
Prenatal
diagnosis
is
very
important
to
allow
parents
to
have
healthy
children
.
Diseases
Validation
Diseases presenting
"first case"
symptom
achondroplasia
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
alpha-thalassemia
aniridia
aromatase deficiency
canavan disease
carcinoma of the gallbladder
child syndrome
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital toxoplasmosis
cushing syndrome
cutaneous mastocytosis
dedifferentiated liposarcoma
dentin dysplasia
dracunculiasis
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
esophageal adenocarcinoma
esophageal carcinoma
fabry disease
familial mediterranean fever
focal myositis
gm1 gangliosidosis
harlequin ichthyosis
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
krabbe disease
lamellar ichthyosis
legionellosis
liposarcoma
locked-in syndrome
malignant atrophic papulosis
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
pendred syndrome
pleomorphic liposarcoma
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
systemic capillary leak syndrome
thoracic outlet syndrome
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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