A novel homozygous mutation in UNC13D presenting as Epstein-Barr-virus-associated lymphoproliferative disease at 9 years of age.
a Pediatric Oncology, Hematology and Clinical Immunology , Heinrich Heine University Medical Center , Düsseldorf , Germany.
Kirsten
K
Bienemann
a Pediatric Oncology, Hematology and Clinical Immunology , Heinrich Heine University Medical Center , Düsseldorf , Germany.
Svenja
S
Daschkey
b Clinic for Hematology/Oncology and Clinic for Stem Cell Transplantation and Immunology , University Children's Hospital , Frankfurt , Germany.
Jan
J
Sörensen
b Clinic for Hematology/Oncology and Clinic for Stem Cell Transplantation and Immunology , University Children's Hospital , Frankfurt , Germany.
Dirk
D
Schwabe
b Clinic for Hematology/Oncology and Clinic for Stem Cell Transplantation and Immunology , University Children's Hospital , Frankfurt , Germany.
Thomas
T
Klingebiel
a Pediatric Oncology, Hematology and Clinical Immunology , Heinrich Heine University Medical Center , Düsseldorf , Germany.
Andrea
A
Hönscheid
a Pediatric Oncology, Hematology and Clinical Immunology , Heinrich Heine University Medical Center , Düsseldorf , Germany.
Michael
M
Gombert
a Pediatric Oncology, Hematology and Clinical Immunology , Heinrich Heine University Medical Center , Düsseldorf , Germany.
Sebastian
S
Ginzel
a Pediatric Oncology, Hematology and Clinical Immunology , Heinrich Heine University Medical Center , Düsseldorf , Germany.
Arndt
A
Borkhardt
D019943:Amino Acid Substitution; D002648:Child; D003241:Consanguinity; D020031:Epstein-Barr Virus Infections / Q000150:complications* / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D004854:Herpesvirus 4, Human / Q000472:pathogenicity; D006720:Homozygote; D006801:Humans; D008232:Lymphoproliferative Disorders / Q000175:diagnosis / Q000235:genetics* / Q000821:virology*; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D014421:Turkey
D008565:Membrane Proteins; C507969:UNC13D protein, human