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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
"failure to thrive"
symptom
22q11.2 deletion syndrome
alexander disease
child syndrome
congenital diaphragmatic hernia
cystinuria
familial hypocalciuric hypercalcemia
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
neonatal adrenoleukodystrophy
omenn syndrome
papillon-lefèvre syndrome
pyruvate dehydrogenase deficiency
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated