Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Journal of pediatric hematology/oncology - 1 Jul 2018

Verzegnassi Federico, Valencic Erica, Kiren Valentina, Giurici Nagua, Bianco Anna Monica, Marcuzzi Annalisa, Vozzi Diego, Tommasini Alberto, Faletra Flavio

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Exome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Herpesvirus 4, Human

Share to High-Throughput Nucleotide Sequencing

Share to Lymphoma

Share to Mutation

Source

Identifiers

PMID: 29176466
DOI: 10.1097/MPH.0000000000001004

Genes

CTPS2
CTPS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Challenge of Next Generation Sequencing in a Boy With Severe Mononucleosis and EBV-related Lymphoma.PMID 29176466Read ↗

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.Semantic proximity Read ↗

Molecular diagnosis of severe combined immunodeficiency using whole-exome sequencing.Semantic proximity Read ↗

Utility of next generation sequencing in clinical primary immunodeficiencies.Semantic proximity Read ↗

Contribution of high‐throughput DNA sequencing to the study of primary immunodeficienciesSemantic proximity Read ↗

Diagnostics of Primary Immunodeficiencies through Next-Generation SequencingSemantic proximity Read ↗

Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future PerspectivesSemantic proximity Read ↗

Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies.Semantic proximity Read ↗

Next Generation Sequencing Data Analysis in Primary Immunodeficiency Disorders - Future Directions.Semantic proximity Read ↗

Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencingSemantic proximity Read ↗

Linking newborn severe combined immunodeficiency screening with targeted exome sequencing: A case report.Semantic proximity Read ↗

Identification of Novel JAK3 Mutations by Whole-Exome Sequencing in a Korean Boy With Severe Combined Immunodeficiency.Semantic proximity Read ↗

Comprehensive molecular diagnosis of Epstein-Barr virus-associated lymphoproliferative diseases using next-generation sequencing.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.