X-linked lymphoproliferative disease (XLP) is a disorder of the immune system and blood-forming cells that is found almost exclusively in males. More than half of individuals with this disorder experience an exaggerated immune response to the Epstein-Barr virus (EBV). EBV is a very common virus that eventually infects most humans. In some people it causes infectious mononucleosis (commonly known as "mono"). Normally, after initial infection, EBV remains in certain immune system cells (lymphocytes) called B cells. However, the virus is generally inactive (latent) because it is controlled by other lymphocytes called T cells that specifically target EBV-infected B cells.
Mutations in the SH2D1A and XIAP genes cause XLP. SH2D1A gene mutations cause XLP1, and XIAP gene mutations cause XLP2.
XLP1 is estimated to occur in about 1 per million males worldwide. XLP2 is less common, occurring in about 1 per 5 million males.
This condition is generally inherited in an X-linked recessive pattern. The genes associated with this condition are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of an associated gene in each cell is sufficient to cause the condition. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Rebecca Marsh is a Pediatrics specialist and a Pediatric Hematologist Oncology doctor in Cincinnati, Ohio. Dr. Marsh has been practicing medicine for over 19 years and is rated as an Elite doctor by MediFind in the treatment of X-Linked Lymphoproliferative Disease. She is also highly rated in 13 other conditions, according to our data. Her top areas of expertise are X-Linked Lymphoproliferative Disease, Hemophagocytic Lymphohistiocytosis, Non-Langerhans-Cell Histiocytosis, and Histiocytosis. She is licensed to treat patients in Ohio. Dr. Marsh is currently accepting new patients.
Hossein Khedmat is in Tehran, Islamic Republic of Iran. Khedmat is rated as an Elite expert by MediFind in the treatment of X-Linked Lymphoproliferative Disease. He is also highly rated in 6 other conditions, according to our data. His top areas of expertise are X-Linked Lymphoproliferative Disease, Kidney Transplant, Helicobacter Pylori Infection, and Metabolic Syndrome.
Daan Dierickx is in Leuven, Belgium. Dierickx is rated as an Elite expert by MediFind in the treatment of X-Linked Lymphoproliferative Disease. He is also highly rated in 10 other conditions, according to our data. His top areas of expertise are X-Linked Lymphoproliferative Disease, Autoimmune Hemolytic Anemia, Bone Marrow Transplant, and Mononucleosis.
Published Date: May 17, 2021Published By: National Institutes of Health