[Nijmegen breakage syndrome associated with pulmonary lymphoma].
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.
Moreno Pérez
D
D
Unidades de Infectología e Inmunodeficiencias Pediátricas. Hospital Materno-Infantil. Complejo Hospitalario Carlos Haya. Málaga. España.
García Martín
F J
FJ
Vázquez López
R
R
Pérez Ruiz
E
E
González Valentín
M E
ME
Weil Lara
B
B
Jurado Ortiz
A
A
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
D018797:Cell Cycle Proteins; D009687:Nuclear Proteins