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ITK deficiency in short
- A rare autosomal recessive primary immunodeficiency marked by increased vulnerability to Epstein-Barr virus (EBV)-associated lymphoproliferative disorders, including malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma, lymphoid granulomatosis, hemophagocytic lymphohistiocytosis, and smooth muscle tumors.
- Affected individuals typically experience persistent features of infectious mononucleosis—such as recurrent fevers, lymphadenopathy, and hepatosplenomegaly—alongside elevated EBV viral load in the blood.
- Autoimmune complications, such as hemolytic anemia or kidney involvement, may also occur.
Synonyms
- Combined immunodeficiency due to ITK deficiency
- Autosomal recessive lymphoproliferative disease due to ITK deficiency
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Adolescent, Childhood
