The Challenge of Next Generation Sequencing in a Boy With Severe Mononucleosis and EBV-related Lymphoma

J Pediatr Hematol Oncol. 2018 Jul;40(5):e323-e326. doi: 10.1097/MPH.0000000000001004.


A severe course of infectious mononucleosis should always lead up to the suspicion of a primary immunodeficiency. We describe the case of a boy with severe mononucleosis accompanied by the development of hemophagocytic lymphohistiocytosis and lymphoma. By whole exome sequencing, we identified a mutation of uncertain significance in CTPS2, a gene closely related to CTPS1, which is involved in a primary immune deficiency with susceptibility to herpesviruses. We discuss the challenge of a correct interpretation of data from whole exome sequencing, questioning whether the CTPS2 variant found in our patient is just an incidental finding or a mutation with variable penetrance.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Exome*
  • Herpesvirus 4, Human / genetics*
  • High-Throughput Nucleotide Sequencing*
  • Humans
  • Infectious Mononucleosis* / genetics
  • Infectious Mononucleosis* / virology
  • Lymphoma* / genetics
  • Lymphoma* / virology
  • Male
  • Mutation*