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Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review.
[severe combined immunodeficiency]
Severe
combined
immunodeficiency
(
SCID
)
is
a
heterogeneous
group
of
inherited
defects
involving
the
development
of
T
-
and
/
or
B-
lymphocytes
.
We
report
a
female
with
atypical
severe
combined
immunodeficiency
caused
by
a
novel
homozygous
mutation
at
cDNA
position
2290
(
c
.
2290
C
 
>
 
T
)
in
exon
2
of
the
RAG
1
gene
.
The
patient
presented
with
bronchopneumonia
,
pyoderma
gangrenosum
(
PG
)
,
pancytopenia
and
splenomegaly
.
She
presented
to
us
with
pancytopenia
and
splenomegaly
at
the
age
of
11
.
Her
condition
was
complicated
by
PG
on
left
lower
ankle
at
the
age
of
12
.
She
experienced
bronchopneumonia
at
the
age
of
15
.
She
was
diagnosed
with
RAG
1
deficiency
at
the
age
of
16
.
Her
immunological
presentation
included
leucopenia
and
diminished
number
of
B
cells
.
