title: Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome.
abstract: A 14-year-old Japanese girl with a progressing combined immunodeficiency had developed non-Hodgkin's diffuse large B cell lymphoma. Her molecular analysis showed a compound heterozygote of novel mutations in the LIG4 gene, M249V substitution and a five nucleotides deletion from nucleotide position 1,270-1,274. She had also a set of characteristic clinical features of LIG4 syndrome. Mutations in the LIG4 gene, which plays a critical role in the repair of DNA double-strand breaks, imply a correlation with malignancies and several cases with leukemia or lymphoma have already been reported. We report here on a case of LIG4 syndrome complicated with distinct EBV-associated B-cell lymphoma.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Hokkaido University, Sapporo, Japan. toita@med.hokudai.ac.jp
authors.forename: Nariaki
authors.initials: N
authors.lastname: Toita
authors.forename: Norikazu
authors.initials: N
authors.lastname: Hatano
authors.forename: Satoru
authors.initials: S
authors.lastname: Ono
authors.forename: Masafumi
authors.initials: M
authors.lastname: Yamada
authors.forename: Ryoji
authors.initials: R
authors.lastname: Kobayashi
authors.forename: Ichiro
authors.initials: I
authors.lastname: Kobayashi
authors.forename: Nobuaki
authors.initials: N
authors.lastname: Kawamura
authors.forename: Motohiko
authors.initials: M
authors.lastname: Okano
authors.forename: Akira
authors.initials: A
authors.lastname: Satoh
authors.forename: Atsuko
authors.initials: A
authors.lastname: Nakagawa
authors.forename: Koichi
authors.initials: K
authors.lastname: Ohshima
authors.forename: Masanobu
authors.initials: M
authors.lastname: Shindoh
authors.forename: Tsuyoshi
authors.initials: T
authors.lastname: Takami
authors.forename: Kunihiko
authors.initials: K
authors.lastname: Kobayashi
authors.forename: Tadashi
authors.initials: T
authors.lastname: Ariga
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D001483:Base Sequence; D000072481:DNA Ligase ATP; D011088:DNA Ligases / Q000172:deficiency / Q000235:genetics*; D020031:Epstein-Barr Virus Infections / Q000473:pathology* / Q000821:virology; D005260:Female; D004854:Herpesvirus 4, Human; D006801:Humans; D016393:Lymphoma, B-Cell / Q000473:pathology* / Q000821:virology; D017384:Sequence Deletion; D013577:Syndrome
chemical_list: C000607893:LIG4 protein, human; D011088:DNA Ligases; D000072481:DNA Ligase ATP