lymphoproliferative syndrome 2

A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutatio

A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13.

Signs and symptoms

• Hepatomegaly
• Splenomegaly
• Lymphadenopathy
• Persistent EBV viremia
• Decreased mitogen-induced T-cell proliferation
• Recurrent infections
• Lymphoproliferative disorder
• Decreased circulating immunoglobulin concentration
• Fever
• Hepatosplenomegaly

Also known as: CD27 deficiency; LPFS2