A novel homozygous mutation in UNC13D presenting as Epstein-Barr-virus-associated lymphoproliferative disease at 9 years of age

Leuk Lymphoma. 2016 Dec;57(12):2949-2951. doi: 10.1080/10428194.2016.1177724. Epub 2016 Apr 28.

Authors

Kirsten Bienemann¹, Svenja Daschkey¹, Jan Sörensen², Dirk Schwabe², Thomas Klingebiel², Andrea Hönscheid¹, Michael Gombert¹, Sebastian Ginzel¹, Arndt Borkhardt¹

Affiliations

¹ a Pediatric Oncology, Hematology and Clinical Immunology , Heinrich Heine University Medical Center , Düsseldorf , Germany.
² b Clinic for Hematology/Oncology and Clinic for Stem Cell Transplantation and Immunology , University Children's Hospital , Frankfurt , Germany.

PMID: 27123661
DOI: 10.1080/10428194.2016.1177724

No abstract available

Publication types

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

MeSH terms

Amino Acid Substitution
Child
Consanguinity
Epstein-Barr Virus Infections / complications*
Epstein-Barr Virus Infections / diagnosis
Epstein-Barr Virus Infections / genetics*
Epstein-Barr Virus Infections / pathology
Female
Herpesvirus 4, Human / pathogenicity
Homozygote*
Humans
Lymphoproliferative Disorders / diagnosis
Lymphoproliferative Disorders / genetics*
Lymphoproliferative Disorders / virology*
Membrane Proteins / genetics*
Mutation, Missense*
Polymorphism, Single Nucleotide
Turkey

Substances

Membrane Proteins
UNC13D protein, human