lymphoproliferative syndrome 1

A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hod

A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32.

Signs and symptoms

• Pleural effusion
• Persistent EBV viremia
• Hepatomegaly
• Decreased total CD4+ T cell proportion
• Recurrent infections
• Lymphadenopathy
• Splenomegaly
• Decreased total leukocyte count
• Increased circulating ferritin concentration
• Elevated circulating C-reactive protein concentration

Also known as: LPFS1