title: [Nijmegen breakage syndrome associated with pulmonary lymphoma].
abstract: Nijmegen breakage syndrome is a rare autosomal recessive disorder characterized by a peculiar dysmorphic syndrome (microcephaly, "bird-like" facies, short stature), combined immunodeficiency with recurrent infections, X-ray hypersensitivity and predisposition to malignancy, mainly lymphomas, as a consequence of chromosome instability due to anomalies in the repair of double-stranded DNA breaks.We present a 6-year-old boy with Nijmegen breakage syndrome, who developed a large B-cell non-Hodgkin's lymphoma, localized in the lung without nodal involvement.
authors.affiliation: Unidades de Infectología e Inmunodeficiencias Pediátricas. Hospital Materno-Infantil. Complejo Hospitalario Carlos Haya. Málaga. España.
authors.forename: D
authors.initials: D
authors.lastname: Moreno Pérez
authors.forename: F J
authors.initials: FJ
authors.lastname: García Martín
authors.forename: R
authors.initials: R
authors.lastname: Vázquez López
authors.forename: E
authors.initials: E
authors.lastname: Pérez Ruiz
authors.forename: M E
authors.initials: ME
authors.lastname: González Valentín
authors.forename: B
authors.initials: B
authors.lastname: Weil Lara
authors.forename: A
authors.initials: A
authors.lastname: Jurado Ortiz
mesh_terms: D018797:Cell Cycle Proteins / Q000235:genetics; D043171:Chromosomal Instability; D053903:DNA Breaks, Double-Stranded; D006801:Humans; D008228:Lymphoma, Non-Hodgkin; D008831:Microcephaly; D049932:Nijmegen Breakage Syndrome; D009687:Nuclear Proteins / Q000235:genetics
chemical_list: D018797:Cell Cycle Proteins; D009687:Nuclear Proteins