CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia
JM Van Montfrans, AIM Hoepelman, S Otto… - Journal of Allergy and …, 2012 - Elsevier
BACKGROUND: CD27 is a lymphocyte costimulatory molecule that regulates T-cell, natural
killer (NK) cell, B-cell, and plasma cell function, survival, and differentiation. On the basis of
its function and expression pattern, we considered CD27 a candidate gene in patients with
hypogammaglobulinemia. OBJECTIVE: We sought to describe the clinical and immunologic
phenotypes of patients with genetic CD27 deficiency. METHODS: A molecular and extended
immunologic analysis was performed on 2 patients lacking CD27 expression. RESULTS …
killer (NK) cell, B-cell, and plasma cell function, survival, and differentiation. On the basis of
its function and expression pattern, we considered CD27 a candidate gene in patients with
hypogammaglobulinemia. OBJECTIVE: We sought to describe the clinical and immunologic
phenotypes of patients with genetic CD27 deficiency. METHODS: A molecular and extended
immunologic analysis was performed on 2 patients lacking CD27 expression. RESULTS …