A germline mutation in interleukin-2-inducible T-cell kinase (ITK) is described in individuals manifesting B-cell LPDs, cHL, and hemophagocytic syndromes following Epstein-Barr virus (EBV) infection.
IL-2-inducible T-cell kinase deficiency underlies a new primary immune deficiency which may account for part of the spectrum of Epstein Barr virus related lymphoproliferative disorders which can be successfully corrected by bone marrow transplantation.
Here, we show that the expression of ITK-SYK in the bone marrow of BALB/c mice causes a T-cell lymphoproliferative disease in all transplanted mice within 8 weeks after transplantation.