Epstein-Barr Virus-Associated γδ T-Cell Lymphoproliferative Disorder Associated With Hypomorphic IL2RG Mutation

• Main Authors: Kay Tanita (Author), Akihiro Hoshino (Author), Ken-Ichi Imadome (Author), Takahiro Kamiya (Author), Kento Inoue (Author), Tsubasa Okano (Author), Tzu-wen Yeh (Author), Masakatsu Yanagimachi (Author), Akira Shiraishi (Author), Masataka Ishimura (Author), Tilmann Schober (Author), Meino Rohlfs (Author), Masatoshi Takagi (Author), Kohsuke Imai (Author), Hidetoshi Takada (Author), Shouichi Ohga (Author), Christoph Klein (Author), Tomohiro Morio (Author), Hirokazu Kanegane (Author)
• Format: Book
• Published: Frontiers Media S.A., 2019-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

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.

Item Description

2296-2360
10.3389/fped.2019.00015