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Course of IL-2-inducible T-cell kinase deficiency in a family: lymphomatoid granulomatosis, lymphoma and allogeneic bone marrow transplantation in one sibling; and death in the other

Bone Marrow Transplantation volume 52, pages 126–129 (2017)Cite this article

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IL-2-inducible T-cell kinase (ITK) is an intracellular protein expressed in T lymphocytes. It has a critical role in proximal TCR signaling, T cell differentiation and natural killer (NK)T cell maturation/survival. It participates in antiviral and antitumor immunity.1, 2

Deficiency of ITK was first reported in two siblings in 2009 as an autosomal recessive form of primary immunodeficiency (PID).3 Ghosh et al.4 reviewed the total of 9 cases of ITK deficiency. Recurrent febrile episodes associating EBV, hemophagocytosis and lymphoproliferation have been identified, and hematopoietic stem cell transplantation (HSCT) was performed in two of them.

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Authors and Affiliations

  1. Hacettepe University İhsan Doğramacı Children’s Hospital, Section of Pediatric Immunology, Ankara, Turkey

    D Çağdaş, B Erman, Ö Sanal & İ Tezcan

  2. Hacettepe University İhsan Doğramacı Children's Hospital, Section of Pediatrics, Ankara, Turkey

    D Hanoğlu

  3. Hacettepe University İhsan Doğramacı Children's Hospital, Section of Pediatric Hematology, Ankara, Turkey

    B Tavil, B Kuşkonmaz & D Uçkan

  4. Hacettepe University İhsan Doğramacı Children's Hospital, Section of Pediatric Oncology, Ankara, Turkey

    B Aydın & C Akyüz

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  1. D Çağdaş
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Correspondence to D Çağdaş.

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Çağdaş, D., Erman, B., Hanoğlu, D. et al. Course of IL-2-inducible T-cell kinase deficiency in a family: lymphomatoid granulomatosis, lymphoma and allogeneic bone marrow transplantation in one sibling; and death in the other. Bone Marrow Transplant 52, 126–129 (2017). https://doi.org/10.1038/bmt.2016.185

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