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Phenotypic variations of cartilage hair hypoplasia: granulomatous skin inflammation and severe T cell immunodeficiency as initial clinical presentation in otherwise well child with short stature.
[hirschsprung disease]
We
report
a
child
with
short
stature
since
birth
who
was
otherwise
well
,
presenting
at
2
.
8
years
with
progressive
granulomatous
skin
lesions
when
diagnosed
with
severe
T
cell
immunodeficiency
.
When
previously
investigated
for
short
stature
,
and
at
the
time
of
current
investigations
,
she
had
no
radiological
skeletal
features
characteristics
for
cartilage
hair
hypoplasia
,
but
we
found
a
disease
causing
RMRP
(
RNase
mitochondrial
RNA
processing
endoribonuclease
)
gene
mutation
.
Whilst
search
for
HLA
matched
unrelated
donor
for
haematopoietic
stem
cell
transplantation
(
HSCT
)
was
underway
,
she
developed
rapidly
progressive
EBV-related
lymphoproliferative
disorder
requiring
laparotomy
and
small
bowel
resection
,
and
was
treated
with
anti-
B
cell
monoclonal
antibody
and
eventually
curative
allogeneic
HSCT
.
Screening
for
RMRP
gene
mutations
should
be
part
of
immunological
evaluation
of
patients
with
'
severe
and
/
or
combined
'
T
cell
immunodeficiency
of
unknown
origin
,
especially
when
associated
with
short
stature
and
regardless
of
presence
or
absence
of
radiological
skeletal
features
.
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