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Lack of nonfunctional B-cell receptor rearrangements in a patient with normal B cell numbers despite partial RAG1 deficiency and atypical SCID/Omenn syndrome.
[omenn syndrome]
A
2
.
5
-
month
old
boy
presented
with
recurrent
wheezing
,
protracted
diarrhea
,
erythrodermia
,
and
failure
to
thrive
.
Laboratory
analysis
showed
lymphocytopenia
with
severely
reduced
T
-
cell
numbers
but
normal
numbers
of
B
and
NK
cells
.
Serum
IgE
was
increased
and
the
patient
had
eosinophilia
.
These
presentations
are
consistent
with
atypical
severe
combined
immunodeficiency
(
SCID
)
/
Omenn
Syndrome
and
the
diagnosis
was
confirmed
by
demonstration
of
homozygosity
for
the
R
841
W
mutation
in
the
catalytic
core
of
RAG
1
.
Comparison
of
the
patient
's
immunoglobulin
heavy
chain
rearrangements
to
those
of
age-matched
controls
,
cord
blood
,
and
adults
revealed
an
almost
total
lack
of
nonproductive
rearrangements
(
2
.
7
%
versus
14
.
7
%
,
27
.
6
%
,
and
19
.
8
%
in
the
controls
,
respectively
)
indicating
failure
to
correct
out-of-frame
rearrangements
by
a
second
rearrangement
on
the
homologous
chromosome
14
.
We
hypothesize
that
the
R
841
W
mutation
causes
a
malfunction
of
RAG
1
that
has
differential
outcome
on
V
(
D
)
J
recombination
in
B
and
T
cells
,
as
the
patient
had
normal
B
cell
numbers
but
suffered
severe
alpha-
beta
T
-
cell
immunodeficiency
.
Diseases
Validation
Diseases presenting
"homologous chromosome"
symptom
monosomy 21
omenn syndrome
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