| Common variable immunodeficiency (CVID) is the
most common symptomatic form of primary antibody
deficiency [1,2]. The underlying causes of CVID are largely
unknown; however, genetic mutations are responsible for
the disease in approximately 10%-20% of patients [3].
Furthermore, there is accumulating evidence that at least a
subgroup of patients with CVID has a complex rather than
a monogenic inheritance pattern [3]. Based on published
cases, lipopolysaccharide-responsive and beige-like anchor
protein (LRBA) deficiency is one of the most common
monogenic disorders found during analysis of mutations
in CVID patients [3,4]. Several studies have reported that
T-cell abnormalities may be involved in the pathogenesis of
immune dysregulation in CVID and LRBA deficiency [4,5].
Regulatory T cell (Treg) abnormalities due to low expression
of forkhead box P3 (FOXP3) and CTLA-4 defects have also
been reported [6]. Although lower levels of CTLA-4 protein
have been found in patients with CVID and LRBA deficiency
and associated with clinical presentations [1,7], no studies have
compared the expression of CTLA-4 transcripts in the CD4+
T cells of patients with LRBA deficiency and CVID patients
with no definitive genetic diagnosis. |