Idiopathic CD4 positive T-lymphocytopenia, Immunodeficiency-13, IMD13


Type of disease: Rare Condition or Disease

Idiopathic CD4 positive T-lymphocytopenia (ICL) is a rare disorder of the immune system. People with ICL have low levels of a type of white blood cell, called a CD4+ T cell. These low levels can not be explained by other causes of immunodeficiency, including HIV infection. T cells have many jobs in our immune system, such as attacking bacteria and viruses. CD4 is a protein found on the surface of many different cells within your immune system. It lets the different cells of your immune system work with each other. When CD4+ T cells are decreased, your body becomes more prone to infection. Idiopathic CD4 lymphopenia (ICL) is a rare and heterogeneous syndrome defined by a reproducible reduction in the CD4 T-lymphocyte count (less than 300 cells per microliter or less than 20% of total T cells) in the absence of HIV infection or other known causes of immunodeficiency. ICL predisposes to infections and malignancy. Immunodeficiency-13 (IMD13) is caused by heterozygous mutation in the UNC119 gene (604011) on chromosome 17q11

Signs and Symptoms of ICL vary. Some people have no symptoms, however most have illnesses suggestive of a lowered immune system, including infections (varicella-zoster virus, human papilloma virus), autoimmune disorders (autoimmune hemolytic anemia, lupus), and certain types of cancer (non-Hodgkin lymphoma). A few people with ICL are found to carry specific gene mutations; however, for most cases of ICL the underlying cause is not known. Currently, there is no cure for ICL, but treatments are available to help manage individual symptoms.

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