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The DDE recombinases: diverse roles in acquired and innate immunity.
[omenn syndrome]
The
RAG
proteins
required
for
V
(
D
)
J
recombination
of
immunoglobulin
and
T
-
cell
receptor
genes
in
the
acquired
immune
response
contain
a
magnesium
ion-binding
site
termed
a
DDE
site
,
composed
of
D
(
aspartic
acid
)
and
E
(
glutamic
acid
)
amino
acids
.
A
similar
DDE-like
magnesium
binding
site
also
is
present
in
transposases
,
retroviral
integrases
,
and
the
innate
antiviral
response
enzymes
RNAse
H
and
RNA-induced
silencing
complex
(
RISC
)
.
To
help
clinicians
understand
immunodeficiency
that
results
from
deficiencies
of
RAG
protein
functions
,
such
as
severe
combined
immunodeficiency
disorders
,
Omenn
syndrome
,
and
ataxia
telangiectasia
,
and
to
be
familiar
with
the
diverse
roles
of
other
DDE
enzymes
.
Literature
published
in
peer
-reviewed
journals
during
the
past
2
decades
that
identified
and
characterized
DDE
enzymes
,
including
RAG
proteins
,
RISC
and
RNA
silencing
,
RNAse
H
,
retroviral
integrases
,
transposases
,
and
a
putative
DDE
recombinase
required
for
herpes
virus
replication
,
was
selectively
reviewed
and
summarized
by
the
author
.
DDE
enzymes
play
a
critical
role
in
acquired
immunity
through
RAG-mediated
immunoglobulin
and
T
-
cell
receptor
V
(
D
)
J
recombination
in
innate
immunity
through
RISC
and
RNAse
H
.
Paradoxically
,
DDE
enzymes
are
critical
components
of
pathogen-
specific
enzymes
such
as
retroviral
integrase
and
other
pathogen-encoded
proteins
.
Because
of
their
critical
role
in
acquired
and
innate
immunity
,
the
DDE
recombinases
are
attractive
targets
for
novel
pharmacologic
therapies
.
Currently
,
retroviral
integrase
inhibitors
in
clinical
trial
for
human
immunodeficiency
virus
infection
appear
to
be
safe
and
effective
and
could
provide
a
paradigm
for
inactivating
DDE
sites
in
other
viral
pathogens
,
as
well
as
RAG
and
RISC
.
Diseases
Validation
Diseases presenting
"immunodeficiency"
symptom
adrenal incidentaloma
allergic bronchopulmonary aspergillosis
cushing syndrome
dracunculiasis
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
kabuki syndrome
legionellosis
malignant atrophic papulosis
oculocutaneous albinism
omenn syndrome
papillon-lefèvre syndrome
primary effusion lymphoma
primary hyperoxaluria type 1
pyomyositis
severe combined immunodeficiency
sneddon syndrome
werner syndrome
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated