Combined immunodeficiency due to ITK deficiency
Synonyms: Autosomal recessive lymphoproliferative disease due to ITK deficiency | ITK deficiency
A rare autosomal recessive primary immunodeficiency characterized by susceptibility to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders such as malignant B-cell proliferation Hodgkin lymphoma B-cell lymphoma lymphoid granulomatosis hemophagocytic lymphohistiocytosis and smooth muscle tumor. Patients present persistent symptoms of infectious mononucleosis including recurrent febrile episodes lymphadenopathies and hepatosplenomegaly accompanied by high EBV viral load in the blood. Additional manifestations are autoimmune diseases like hemolytic anemia or renal disease.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Combined immunodeficiency due to ITK deficiency?
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