One of the most common viruses to infect humans is EBV. Although most people show no or few signs of infection, some develop glandular fever and boys with mutations in either one of two genes on the X-chromosome (SAP and XIAP) develop a fatal lymphoproliferative disease.
Arndt Borkhardt and colleagues, at Heinrich Heine University, Germany, have now identified two girls from a consanguineous Turkish family who died after becoming infected with EBV and developing a lymphoproliferative disorder clinically resembling that observed in EBV-infected boys deficient for SAP or XIAP.
Detailed analysis revealed that the girls had a mutation in both copies of their ITK gene that rendered them deficient in ITK protein.
The authors therefore suggest that ITK deficiency should be considered as a cause of EBV-associated lymphoproliferative disorders by those diagnosing and treating patients.
- Huck et al. Girls homozygous for an IL-2–inducible T cell kinase mutation that leads to protein deficiency develop fatal EBV-associated lymphoproliferation. Journal of Clinical Investigation, 2009; DOI: 10.1172/JCI37901
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