Epstein-Barr virus-associated γδ T-cell lymphoproliferative disorder associated with hypomorphic IL2RG mutation

Kay Tanita, Akihiro Hoshino, Ken Ichi Imadome, Takahiro Kamiya, Kento Inoue, Tsubasa Okano, Tzu wen Yeh, Masakatsu Yanagimachi, Akira Shiraishi, masataka ishimura, Tilmann Schober, Meino Rohlfs, Masatoshi Takagi, Kohsuke Imai, Hidetoshi Takada, Shoichi Ohga, Christoph Klein, Tomohiro Morio, Hirokazu Kanegane

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Abstract

Chronic active Epstein-Barr virus (EBV) infection (CAEBV) is an EBV-associated lymphoproliferative disease characterized by repeated or sustainable infectious mononucleosis (IM)-like symptoms. EBV is usually detected in B cells in patients who have IM or Burkitt's lymphoma and even in patients with X-linked lymphoproliferative syndrome, which is confirmed to have vulnerability to EBV infection. In contrast, EBV infects T cells (CD4+ T, CD8+ T, and γδT) or NK cells mono- or oligoclonally in CAEBV patients. It is known that the CAEBV phenotypes differ depending on which cells are infected with EBV. CAEBV is postulated to be associated with a genetic immunological abnormality, although its cause remains undefined. Here we describe a case of EBV-related γδT-cell proliferation with underlying hypomorphic IL2RG mutation. The immunological phenotype consisted of γδT-cell proliferation in the peripheral blood. A presence of EBV-infected B cells and γδT cells mimicked γδT-cell-type CAEBV. Although the patient had normal expression of CD132 (common γ chain), the phosphorylation of STAT was partially defective, indicating impaired activation of the downstream signal of the JAK/STAT pathway. Although the patient was not diagnosed as having CAEBV, this observation shows that CAEBV might be associated with immunological abnormality.

Original languageEnglish
Article number15
JournalFrontiers in Pediatrics
Volume7
Issue numberFEB
DOIs
Publication statusPublished - Jan 1 2019

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Lymphoproliferative Disorders
Human Herpesvirus 4
T-Lymphocytes
Mutation
Infectious Mononucleosis
Epstein-Barr Virus Infections
B-Lymphocytes
Cell Proliferation
Phenotype
Burkitt Lymphoma
Natural Killer Cells
Phosphorylation

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Tanita, K., Hoshino, A., Imadome, K. I., Kamiya, T., Inoue, K., Okano, T., ... Kanegane, H. (2019). Epstein-Barr virus-associated γδ T-cell lymphoproliferative disorder associated with hypomorphic IL2RG mutation. Frontiers in Pediatrics, 7(FEB), [15]. https://doi.org/10.3389/fped.2019.00015

Epstein-Barr virus-associated γδ T-cell lymphoproliferative disorder associated with hypomorphic IL2RG mutation. / Tanita, Kay; Hoshino, Akihiro; Imadome, Ken Ichi; Kamiya, Takahiro; Inoue, Kento; Okano, Tsubasa; Yeh, Tzu wen; Yanagimachi, Masakatsu; Shiraishi, Akira; ishimura, masataka; Schober, Tilmann; Rohlfs, Meino; Takagi, Masatoshi; Imai, Kohsuke; Takada, Hidetoshi; Ohga, Shoichi; Klein, Christoph; Morio, Tomohiro; Kanegane, Hirokazu.

In: Frontiers in Pediatrics, Vol. 7, No. FEB, 15, 01.01.2019.

Research output: Contribution to journalArticle

Tanita, K, Hoshino, A, Imadome, KI, Kamiya, T, Inoue, K, Okano, T, Yeh, TW, Yanagimachi, M, Shiraishi, A, ishimura, M, Schober, T, Rohlfs, M, Takagi, M, Imai, K, Takada, H, Ohga, S, Klein, C, Morio, T & Kanegane, H 2019, 'Epstein-Barr virus-associated γδ T-cell lymphoproliferative disorder associated with hypomorphic IL2RG mutation', Frontiers in Pediatrics, vol. 7, no. FEB, 15. https://doi.org/10.3389/fped.2019.00015
Tanita, Kay ; Hoshino, Akihiro ; Imadome, Ken Ichi ; Kamiya, Takahiro ; Inoue, Kento ; Okano, Tsubasa ; Yeh, Tzu wen ; Yanagimachi, Masakatsu ; Shiraishi, Akira ; ishimura, masataka ; Schober, Tilmann ; Rohlfs, Meino ; Takagi, Masatoshi ; Imai, Kohsuke ; Takada, Hidetoshi ; Ohga, Shoichi ; Klein, Christoph ; Morio, Tomohiro ; Kanegane, Hirokazu. / Epstein-Barr virus-associated γδ T-cell lymphoproliferative disorder associated with hypomorphic IL2RG mutation. In: Frontiers in Pediatrics. 2019 ; Vol. 7, No. FEB.
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AU - Hoshino, Akihiro

AU - Imadome, Ken Ichi

AU - Kamiya, Takahiro

AU - Inoue, Kento

AU - Okano, Tsubasa

AU - Yeh, Tzu wen

AU - Yanagimachi, Masakatsu

AU - Shiraishi, Akira

AU - ishimura, masataka

AU - Schober, Tilmann

AU - Rohlfs, Meino

AU - Takagi, Masatoshi

AU - Imai, Kohsuke

AU - Takada, Hidetoshi

AU - Ohga, Shoichi

AU - Klein, Christoph

AU - Morio, Tomohiro

AU - Kanegane, Hirokazu

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