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Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation.
[omenn syndrome]
We
report
a
child
with
Omenn
syndrome
(
OS
)
due
to
homozygous
RAG
1
-
C
2
633
T
mutations
who
had
an
unusual
clinical
and
immunological
presentation
.
She
had
delayed
onset
of
OS-associated
clinical
features
,
had
cleared
a
number
of
potentially
fatal
pathogens
including
respiratory
syncytial
virus
,
parainfluenza-
3
virus
and
rotavirus
,
and
was
thriving
at
diagnosis
.
Laboratory
assessment
showed
normal
T
and
B
lymphocyte
number
and
function
.
T
-
cell-receptor
repertoire
in
the
blood
was
relatively
diverse
and
her
primary
immunologic
abnormality
was
skewing
of
circulating
T
-
cells
to
the
memory
phenotype
.
A
compelling
explanation
for
the
perplexing
combination
in
OS
of
atopic
/
autoimmune
and
immunologic
features
has
proven
elusive
.
Homozygous
RAG
1
-
C
2
633
T
hypomorphic
mutation
may
lead
to
significant
residual
immunity
and
a
skewed
memory
phenotype
.
Our
findings
suggest
that
,
in
addition
to
host-genetic
factors
,
environment
,
and
/
or
pathogens
,
hypomorphic
RAG
mutations
may
differentially
impact
on
V
(
D
)
J
recombination
activity
and
hence
lead
to
a
variable
ability
to
sustain
T
and
B
cell
lymphopoiesis
.
Importantly
,
this
case
emphasizes
that
such
hypomorphic
mutations
may
promote
an
attenuated
phenotype
,
complicating
the
diagnosis
of
primary
immunodeficiency
(
PID
)
.
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