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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
"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