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

Kirsten Bienemann,Svenja Daschkey,Jan Sörensen,Schwabe D,Thomas Klingebiel,Andrea Hönscheid,Michael Gombert,Sebastian Ginzel,Arndt Borkhardt

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

2016

Kirsten Bienemann
Svenja Daschkey
Jan Sörensen
Schwabe D
Thomas Klingebiel
Andrea Hönscheid
Michael Gombert
Sebastian Ginzel
Arndt Borkhardt

Epstein–Barr-virus (EBV)-associated hematological diseases in children and young adults are the main feature of a variety of primary immunodeficiency diseases. Chronic active EBV infection giving r...

Keywords:

Diabetes mellitus
Consanguinity
Epstein–Barr virus infection
Membrane protein
Epstein–Barr virus
Immunology
Lymphoproliferative disorders
UNC13D
Medicine
Mutation

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