Dysregulation of Epstein-Barr Virus Infection in Hypomorphic ZAP70 Mutation.
作者： Akihiro Hoshino , Takehiro Takashima , Kenichi Yoshida , Akira Morimoto , Yuta Kawahara
关键词: Immune system 、 T lymphocyte 、 ZAP70 、 Immunology 、 Severe combined immunodeficiency 、 CD8 、 Compound heterozygosity 、 ZAP70 deficiency 、 Biology 、 Mutation
摘要: Background Some patients with genetic defects develop Epstein-Barr virus (EBV)-associated lymphoproliferative disorder (LPD)/lymphoma as the main feature. Hypomophic mutations can cause different clinical and laboratory manifestations from null in same genes. Methods We sought to describe immunologic phenotype of a 21-month-old boy EBV-associated LPD who was good health until then. A analysis performed. Results Whole-exome sequencing identified novel compound heterozygous mutation ZAP70 c.703-1G>A c.1674G>A. small amount normal transcript observed. Unlike deficiency, which has been previously described severe combined immunodeficiency nonfunctional CD4+ T cells absent CD8+ cells, patient had slightly low numbers functional cells. EBV-specific invariant natural killer (iNKT) were absent. The T-cell receptor repertoire, determined using next generation sequencing, significantly restricted. Conclusions Our showed that hypomorphic lead iNKT are critically involved immune response against EBV infection.
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