Rare Diseases Symptoms Automatic Extraction
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GvHD-associated cytokine polymorphisms do not associate with Omenn syndrome rather than T-B- SCID in patients with defects in RAG genes.
[omenn syndrome]
Recombinase
activating
genes
1
/
2
(
RAG
1
/
2
)
deficiency
,
critical
to
initiate
gene
rearrangement
encoding
lymphocyte
receptors
,
causes
T
-B-
severe
combined
immunodeficiency
(
SCID
)
and
Omenn
syndrome
(
OS
)
,
characterised
by
erythroderma
,
hepatosplenomegaly
,
lymphadenopathy
,
activated
,
clonal
T
cell
expansions
with
restricted
TCRVbeta
family
usage
,
and
opportunistic
infection
.
Many
features
of
OS
resemble
graft-versus-host
disease
(
GvHD
)
.
Frequency
of
GvHD-associated
cytokine
gene
polymorphisms
(
CGPs
)
with
OS
was
investigated
to
explain
phenotypic
differences
between
T
-B-
SCID
and
OS
.
Allele
frequencies
of
IFNgamma
T
874
A
,
IFNgamma-R
1
,
TNFalphad
microsatellites
,
IL
-
10
promoter
region
C
5
92
A
and
A
1082
G
,
IL
-
4
C-
590
T
,
IL
-
6
G-
174
C
,
IL
-
4
R
Q
+
576
R
,
IFNgamma-R
1
T
-
56
C
,
TNFalphaRII
196
M
/
R
single
-nucleotide
polymorphisms
and
IL
-
1
R
a
intron
1
VNTR
were
examined
in
33
OS
and
23
SCID
patients
.
No
significant
differences
in
allele
frequencies
were
found
between
the
groups
,
and
no
trends
identified
.
The
mechanisms
determining
the
OS
or
T
-B-NK
+
SCID
phenotype
remain
to
be
determined
.
Diseases
Validation
Diseases presenting
"lymphadenopathy"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
carcinoma of the gallbladder
congenital toxoplasmosis
erdheim-chester disease
focal myositis
hodgkin lymphoma, classical
liposarcoma
lymphangioleiomyomatosis
oculocutaneous albinism
omenn syndrome
primary effusion lymphoma
scrub typhus
severe combined immunodeficiency
typhoid
waldenström macroglobulinemia
wiskott-aldrich syndrome
This symptom has already been validated