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X linked Lymphoproliferative Syndrome
Condition Overview: X-linked Lymphoproliferative Syndrome (XLP) is an extremely rare inherited (primary) immunodeficiency disorder characterized by a defective immune system response to infection with the Epstein-Barr virus (EBV). This herpes virus is common among the general population and causes infectious mononucleosis (IM), usually with no long-lasting effects. However, in individuals with X-Linked Lymphoproliferative Syndrome, exposure to EBV may result in severe, life-threatening infectious mononucleosis; abnormally low levels of antibodies in the blood and body secretions (hypogammaglobulinemia), resulting in increased susceptibility to various infections; malignancies of certain types of lymphoid tissue (B-cell lymphomas); and/or other abnormalities. The range of symptoms and findings associated with XLP may vary from case to case. In addition, the range of effects may change in an affected individual over time. In most cases, individuals with XLP experience an onset of symptoms anytime from approximately six months to 10 years of age.Approximately half of individuals with X-linked Lymphoproliferative Syndrome experience severe, life-threatening mononucleosis characterized by fever, inflammation and soreness of the throat (pharyngitis), swollen lymph glands, enlargement of the spleen (splenomegaly), enlargement of the liver (hepatomegaly), and/or abnormal functioning of the liver, resulting in yellowing of the skin, mucous membranes, and whites of the eyes (jaundice or icterus). In some cases, individuals who experience life-threatening mononucleosis infection may subsequently have an abnormal increase (i.e., proliferation) of certain white blood cells (lymphocytes and histiocytes) in particular organs, severe liver damage and/or failure, damage to the blood-cell generating bone marrow (hematopoietic marrow cells) that may result in aplastic anemia, and/or other symptoms that may result in life-threatening complications in affected children or adults. Aplastic anemia is characterized by a marked deficiency of all types of blood cells (pancytopenia) including low levels of red blood cells, certain white blood cells, and platelets, specialized red blood cells that function to assist appropriate blood clotting. In individuals with XLP, a decrease in platelets (thrombocytopenia) results in increased susceptibility to bruising and excessive bleeding (hemorrhaging). Because X-linked Lymphoproliferative Syndrome is inherited as an X-linked recessive genetic trait, the disorder is usually fully expressed in males only. . |
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