Interleukin-2-Inducible T-Cell Kinase Deficiency—New Patients, New Insight?

• Main Authors: Sujal Ghosh, Ingo Drexler, Sanil Bhatia, Heiko Adler, Andrew R. Gennery, Arndt Borkhardt
• Format: Article
• Language: English
• Published: Frontiers Media S.A. 2018-05-01
• Series: Frontiers in Immunology
• Subjects: primary immunodeficiency; combined immunodeficiency; interleukin-2-inducible T-cell kinase; Epstein–Barr virus-related malignancies; lymphoproliferative disorders
• Online Access: https://www.frontiersin.org/article/10.3389/fimmu.2018.00979/full

Patients with primary immunodeficiency can be prone to severe Epstein–Barr virus (EBV) associated immune dysregulation. Individuals with mutations in the interleukin-2-inducible T-cell kinase (ITK) gene experience Hodgkin and non-Hodgkin lymphoma, EBV lymphoproliferative disease, hemophagocytic lymphohistiocytosis, and dysgammaglobulinemia. In this review, we give an update on further reported patients. We believe that current clinical data advocate early definitive treatment by hematopoietic stem cell transplantation, as transplant outcome in primary immunodeficiency disorders in general has gradually improved in recent years. Furthermore, we summarize experimental data in the murine model to provide further insight of pathophysiology in ITK deficiency.