X-linked lymphoproliferative syndrome 1

A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_mate

A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25.

Signs and symptoms

• Hypoalbuminemia
• Abnormal natural killer cell physiology
• Elevated circulating C-reactive protein concentration
• Recurrent fever
• Pancytopenia
• Decreased circulating immunoglobulin concentration
• Decreased circulating IgG concentration
• Increased circulating IgM concentration
• Infectious encephalitis
• Hepatic encephalopathy

Also known as: XLP1