array:23 [
  "pii" => "S1695403302787195"
  "issn" => "16954033"
  "doi" => "10.1016/S1695-4033(02)78719-5"
  "estado" => "S300"
  "fechaPublicacion" => "2002-12-01"
  "aid" => "78719"
  "copyright" => "Asociación Española de Pediatría"
  "copyrightAnyo" => "2002"
  "documento" => "article"
  "crossmark" => 0
  "subdocumento" => "sco"
  "cita" => "An Pediatr (Barc). 2002;57:574-7"
  "abierto" => array:3 [
    "ES" => false
    "ES2" => false
    "LATM" => false
  ]
  "gratuito" => false
  "lecturas" => array:2 [
    "total" => 8563
    "formatos" => array:3 [
      "EPUB" => 63
      "HTML" => 7731
      "PDF" => 769
    ]
  ]
  "itemSiguiente" => array:18 [
    "pii" => "S1695403302787201"
    "issn" => "16954033"
    "doi" => "10.1016/S1695-4033(02)78720-1"
    "estado" => "S300"
    "fechaPublicacion" => "2002-12-01"
    "aid" => "78720"
    "copyright" => "Asociación Española de Pediatría"
    "documento" => "article"
    "crossmark" => 0
    "subdocumento" => "sco"
    "cita" => "An Pediatr (Barc). 2002;57:578-81"
    "abierto" => array:3 [
      "ES" => false
      "ES2" => false
      "LATM" => false
    ]
    "gratuito" => false
    "lecturas" => array:2 [
      "total" => 7910
      "formatos" => array:3 [
        "EPUB" => 92
        "HTML" => 7163
        "PDF" => 655
      ]
    ]
    "es" => array:10 [
      "idiomaDefecto" => true
      "titulo" => "Nódulo cutáneo como forma de presentación de una leucemia/linfoma linfoblástico de estirpe B"
      "tienePdf" => "es"
      "tieneTextoCompleto" => 0
      "tieneResumen" => array:2 [
        0 => "es"
        1 => "en"
      ]
      "paginas" => array:1 [
        0 => array:2 [
          "paginaInicial" => "578"
          "paginaFinal" => "581"
        ]
      ]
      "titulosAlternativos" => array:1 [
        "en" => array:1 [
          "titulo" => "Cutaneous involvement as the form of presentation in b-cell lymphoblastic leukemia/lymphoma"
        ]
      ]
      "contieneResumen" => array:2 [
        "es" => true
        "en" => true
      ]
      "contienePdf" => array:1 [
        "es" => true
      ]
      "autores" => array:1 [
        0 => array:2 [
          "autoresLista" => "R&#46; L&#243;pez Almaraz, J&#46;M&#46;<span class="elsevierStyleSup">a</span> Raya S&#225;nchez, M&#46; Dom&#237;nguez Su&#225;rez, M&#46;<span class="elsevierStyleSup">a</span>L&#46; Brito Barroso, J&#46; Rodr&#237;guez Luis"
          "autores" => array:5 [
            0 => array:2 [
              "nombre" => "R&#46;"
              "apellidos" => "L&#243;pez Almaraz"
            ]
            1 => array:2 [
              "nombre" => "J&#46;M&#46;<span class="elsevierStyleSup">a</span>"
              "apellidos" => "Raya S&#225;nchez"
            ]
            2 => array:2 [
              "nombre" => "M&#46;"
              "apellidos" => "Dom&#237;nguez Su&#225;rez"
            ]
            3 => array:2 [
              "nombre" => "M&#46;<span class="elsevierStyleSup">a</span>L&#46;"
              "apellidos" => "Brito Barroso"
            ]
            4 => array:2 [
              "nombre" => "J&#46;"
              "apellidos" => "Rodr&#237;guez Luis"
            ]
          ]
        ]
      ]
    ]
    "idiomaDefecto" => "es"
    "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1695403302787201?idApp=UINPBA00005H"
    "url" => "/16954033/0000005700000006/v1_201307051720/S1695403302787201/v1_201307051720/es/main.assets"
  ]
  "itemAnterior" => array:18 [
    "pii" => "S1695403302787183"
    "issn" => "16954033"
    "doi" => "10.1016/S1695-4033(02)78718-3"
    "estado" => "S300"
    "fechaPublicacion" => "2002-12-01"
    "aid" => "78718"
    "copyright" => "Asociaci&#243;n Espa&#241;ola de Pediatr&#237;a"
    "documento" => "article"
    "crossmark" => 0
    "subdocumento" => "sco"
    "cita" => "An Pediatr &#40;Barc&#41;. 2002;57:570-3"
    "abierto" => array:3 [
      "ES" => false
      "ES2" => false
      "LATM" => false
    ]
    "gratuito" => false
    "lecturas" => array:2 [
      "total" => 6589
      "formatos" => array:3 [
        "EPUB" => 84
        "HTML" => 5491
        "PDF" => 1014
      ]
    ]
    "es" => array:10 [
      "idiomaDefecto" => true
      "titulo" => "Miocardio ventricular no compacto aislado"
      "tienePdf" => "es"
      "tieneTextoCompleto" => 0
      "tieneResumen" => array:2 [
        0 => "es"
        1 => "en"
      ]
      "paginas" => array:1 [
        0 => array:2 [
          "paginaInicial" => "570"
          "paginaFinal" => "573"
        ]
      ]
      "titulosAlternativos" => array:1 [
        "en" => array:1 [
          "titulo" => "Isolated non-compaction of the ventricular myocardium"
        ]
      ]
      "contieneResumen" => array:2 [
        "es" => true
        "en" => true
      ]
      "contienePdf" => array:1 [
        "es" => true
      ]
      "autores" => array:1 [
        0 => array:2 [
          "autoresLista" => "J&#46;J&#46; Salazar Gonz&#225;lez, S&#46; Rite Monta&#241;&#233;s, A&#46; Asso Abad&#237;a, E&#46; Pueo Crespo, E&#46; Salazar Gonz&#225;lez, L&#46;J&#46; Placer Peralta"
          "autores" => array:6 [
            0 => array:2 [
              "nombre" => "J&#46;J&#46;"
              "apellidos" => "Salazar Gonz&#225;lez"
            ]
            1 => array:2 [
              "nombre" => "S&#46;"
              "apellidos" => "Rite Monta&#241;&#233;s"
            ]
            2 => array:2 [
              "nombre" => "A&#46;"
              "apellidos" => "Asso Abad&#237;a"
            ]
            3 => array:2 [
              "nombre" => "E&#46;"
              "apellidos" => "Pueo Crespo"
            ]
            4 => array:2 [
              "nombre" => "E&#46;"
              "apellidos" => "Salazar Gonz&#225;lez"
            ]
            5 => array:2 [
              "nombre" => "L&#46;J&#46;"
              "apellidos" => "Placer Peralta"
            ]
          ]
        ]
      ]
    ]
    "idiomaDefecto" => "es"
    "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1695403302787183?idApp=UINPBA00005H"
    "url" => "/16954033/0000005700000006/v1_201307051720/S1695403302787183/v1_201307051720/es/main.assets"
  ]
  "es" => array:14 [
    "idiomaDefecto" => true
    "titulo" => "Linfoma pulmonar asociado a s&#237;ndrome de Nijmegen"
    "tieneTextoCompleto" => 0
    "paginas" => array:1 [
      0 => array:2 [
        "paginaInicial" => "574"
        "paginaFinal" => "577"
      ]
    ]
    "autores" => array:1 [
      0 => array:4 [
        "autoresLista" => "D&#46; Moreno P&#233;rez, F&#46;J&#46; Garc&#237;a Mart&#237;n, R&#46; V&#225;zquez L&#243;pez, E&#46; P&#233;rez Ruiz, M&#46;E&#46; Gonz&#225;lez Valent&#237;n, B&#46; Weil Lara, A&#46; Jurado Ortiz"
        "autores" => array:7 [
          0 => array:4 [
            "nombre" => "D&#46;"
            "apellidos" => "Moreno P&#233;rez"
            "email" => array:1 [
              0 => "dmorenop&#64;wanadoo&#46;es"
            ]
            "referencia" => array:2 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "aff0005"
              ]
              1 => array:2 [
                "etiqueta" => "&#42;"
                "identificador" => "cor0005"
              ]
            ]
          ]
          1 => array:3 [
            "nombre" => "F&#46;J&#46;"
            "apellidos" => "Garc&#237;a Mart&#237;n"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "aff0005"
              ]
            ]
          ]
          2 => array:3 [
            "nombre" => "R&#46;"
            "apellidos" => "V&#225;zquez L&#243;pez"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "aff0005"
              ]
            ]
          ]
          3 => array:3 [
            "nombre" => "E&#46;"
            "apellidos" => "P&#233;rez Ruiz"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">b</span>"
                "identificador" => "aff0010"
              ]
            ]
          ]
          4 => array:3 [
            "nombre" => "M&#46;E&#46;"
            "apellidos" => "Gonz&#225;lez Valent&#237;n"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">c</span>"
                "identificador" => "aff0015"
              ]
            ]
          ]
          5 => array:3 [
            "nombre" => "B&#46;"
            "apellidos" => "Weil Lara"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">d</span>"
                "identificador" => "aff0020"
              ]
            ]
          ]
          6 => array:3 [
            "nombre" => "A&#46;"
            "apellidos" => "Jurado Ortiz"
            "referencia" => array:1 [
              0 => array:2 [
                "etiqueta" => "<span class="elsevierStyleSup">a</span>"
                "identificador" => "aff0005"
              ]
            ]
          ]
        ]
        "afiliaciones" => array:4 [
          0 => array:3 [
            "entidad" => "Unidades de Infectolog&#237;a e Inmunodeficiencias Pedi&#225;tricas Hospital Materno-Infantil&#46; Complejo Hospitalario Carlos Haya&#46; M&#225;laga&#46; Espa&#241;a"
            "etiqueta" => "<span class="elsevierStyleSup">a</span>"
            "identificador" => "aff0005"
          ]
          1 => array:3 [
            "entidad" => "Unidades de Neumolog&#237;a Pedi&#225;trica&#46; Neumolog&#237;a Pedi&#225;trica&#46; Hospital Materno-Infantil&#46; Complejo Hospitalario Carlos Haya&#46; M&#225;laga&#46; Espa&#241;a"
            "etiqueta" => "<span class="elsevierStyleSup">b</span>"
            "identificador" => "aff0010"
          ]
          2 => array:3 [
            "entidad" => "Servicios de Hematolog&#237;a Infantil Hospital Materno-Infantil&#46; Complejo Hospitalario Carlos Haya&#46; M&#225;laga&#46; Espa&#241;a"
            "etiqueta" => "<span class="elsevierStyleSup">c</span>"
            "identificador" => "aff0015"
          ]
          3 => array:3 [
            "entidad" => "Servicios de Anatom&#237;a Patol&#243;gica&#46; Hospital Materno-Infantil&#46; Complejo Hospitalario Carlos Haya&#46; M&#225;laga&#46; Espa&#241;a"
            "etiqueta" => "<span class="elsevierStyleSup">d</span>"
            "identificador" => "aff0020"
          ]
        ]
        "correspondencia" => array:1 [
          0 => array:3 [
            "identificador" => "cor0005"
            "etiqueta" => "&#42;"
            "correspondencia" => "Correspondencia&#58; Santa Julia&#44; 10&#46; 29640 Fuengirola&#46; M&#225;laga&#46; Espa&#241;a&#46;"
          ]
        ]
      ]
    ]
    "titulosAlternativos" => array:1 [
      "en" => array:1 [
        "titulo" => "Nijmegen breakage syndrome associated with pulmonary lymphoma"
      ]
    ]
    "pdfFichero" => "main.pdf"
    "tienePdf" => true
    "fechaRecibido" => "2002-04-01"
    "fechaAceptado" => "2002-07-01"
    "PalabrasClave" => array:2 [
      "es" => array:1 [
        0 => array:4 [
          "clase" => "keyword"
          "titulo" => "Palabras clave"
          "identificador" => "xpalclavsec187101"
          "palabras" => array:5 [
            0 => "<span class="elsevierStyleItalic">S&#237;ndrome de Nijmegen</span>"
            1 => "<span class="elsevierStyleItalic">Roturas cromos&#243;micas</span>"
            2 => "<span class="elsevierStyleItalic">Inmunodeficiencia primaria</span>"
            3 => "<span class="elsevierStyleItalic">Linfoma no hodgkiniano</span>"
            4 => "<span class="elsevierStyleItalic">Linfoma de c&#233;lulas B rico en c&#233;lulas T</span>"
          ]
        ]
      ]
      "en" => array:1 [
        0 => array:4 [
          "clase" => "keyword"
          "titulo" => "Key words"
          "identificador" => "xpalclavsec187100"
          "palabras" => array:5 [
            0 => "<span class="elsevierStyleItalic">Nijmegen breakage syndrome</span>"
            1 => "<span class="elsevierStyleItalic">Chromosome breakage</span>"
            2 => "<span class="elsevierStyleItalic">Primary immunodeficiency</span>"
            3 => "<span class="elsevierStyleItalic">Non-Hodgkin&#39;s lymphoma</span>"
            4 => "<span class="elsevierStyleItalic">T-cell-rich B-cell lymphoma</span>"
          ]
        ]
      ]
    ]
    "tieneResumen" => true
    "resumen" => array:2 [
      "es" => array:1 [
        "resumen" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">El s&#237;ndrome de Nijmegen es una rara entidad autos&#243;mica recesiva caracterizada por un s&#237;ndrome dism&#243;rfico peculiar &#40;microcefalia&#44; cara de p&#225;jaro&#44; talla corta&#41;&#44; inmunodeficiencia combinada acompa&#241;ada de infecciones recurrentes&#44; hipersensibilidad a las radiaciones ionizantes y predisposici&#243;n a la aparici&#243;n de neoplasias&#44; sobre todo linfomas&#44; debido a inestabilidad cromos&#243;mica por anomal&#237;as en los mecanismos de reparaci&#243;n de las roturas del ADN&#46;</p><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Se presenta el caso de un paciente de 6 a&#241;os con s&#237;ndrome de Nijmegen&#44; que en su evoluci&#243;n desarroll&#243; un linfoma no hodgkiniano de c&#233;lulas B grandes de localizaci&#243;n pulmonar sin afectaci&#243;n ganglionar&#46;</p>"
      ]
      "en" => array:1 [
        "resumen" => "<p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Nijmegen breakage syndrome is a rare autosomal recessive disorder characterized by a peculiar dysmorphic syndrome &#40;microcephaly&#44; &#8220;bird-like&#8482; facies&#44; short stature&#41;&#44; combined immunodeficiency with recurrent infections&#44; X-ray hypersensitivity and predisposition to malignancy&#44; mainly lymphomas&#44; as a consequence of chromosome instability due to anomalies in the repair of double-stranded DNA breaks&#46;</p><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">We present a 6-year-old boy with Nijmegen breakage syndrome&#44; who developed a large B-cell non-Hodgkin&#39;s lymphoma&#44; localized in the lung without nodal involvement&#46;</p>"
      ]
    ]
    "bibliografia" => array:2 [
      "titulo" => "Bibliograf&#237;a"
      "seccion" => array:1 [
        0 => array:2 [
          "identificador" => "bibs0005"
          "bibliografiaReferencia" => array:18 [
            0 => array:3 [
              "identificador" => "bib0005"
              "etiqueta" => "1&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Bakkeren JAJM&#44; Taalmann RDFM&#46; A new chromosomal instability disorder&#58; The Nijmegen breakage syndrome"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:4 [
                            0 => "C&#46;M&#46;R&#46; Weemaes"
                            1 => "T&#46;W&#46;J&#46; Hustinx"
                            2 => "J&#46;M&#46;J&#46;C&#46; Scheres"
                            3 => "P&#46;J&#46;J&#46; Van Munster"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "Acta Paediatr Scand"
                        "fecha" => "1981"
                        "volumen" => "70"
                        "paginaInicial" => "557"
                        "paginaFinal" => "564"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/7315300"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            1 => array:3 [
              "identificador" => "bib0010"
              "etiqueta" => "2&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Nijmegen breakage syndrome"
                      "autores" => array:1 [
                        0 => array:2 [
                          "colaboracion" => "The International Nijmegen Breakage Syndrome Study Group"
                          "etal" => false
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "Arch Dis Child"
                        "fecha" => "2000"
                        "volumen" => "82"
                        "paginaInicial" => "400"
                        "paginaFinal" => "406"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/10799436"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            2 => array:3 [
              "identificador" => "bib0015"
              "etiqueta" => "3&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Role of Nijmegen breakage syndrome protein in specific T-lymphocyte activation pathways"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "M&#46;A&#46; Garcia-Perez"
                            1 => "L&#46;M&#46; Allende"
                            2 => "A&#46; Corell"
                            3 => "E&#46; Paz-Artal"
                            4 => "P&#46; Varela"
                            5 => "A&#46; Lopez-Goyanes"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1128/CDLI.8.4.757-761.2001"
                      "Revista" => array:6 [
                        "tituloSerie" => "Clin Diagn Lab Immunol"
                        "fecha" => "2001"
                        "volumen" => "8"
                        "paginaInicial" => "757"
                        "paginaFinal" => "761"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/11427422"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            3 => array:3 [
              "identificador" => "bib0020"
              "etiqueta" => "4&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Chromosomal breakage syndromes and the BRCA1 genome surveillance complex"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [
                            0 => "M&#46; Futaki"
                            1 => "J&#46;M&#46; Liu"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "Trends Mol Med"
                        "fecha" => "2001"
                        "volumen" => "7"
                        "paginaInicial" => "560"
                        "paginaFinal" => "565"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/11733219"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            4 => array:3 [
              "identificador" => "bib0025"
              "etiqueta" => "5&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Weemaes CMR&#46; Nijmegen breakage syndrome"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:3 [
                            0 => "I&#46; Van der Burgt"
                            1 => "K&#46;H&#46; Chrzanowska"
                            2 => "D&#46; Smeets"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "J Med Genet"
                        "fecha" => "1996"
                        "volumen" => "33"
                        "paginaInicial" => "153"
                        "paginaFinal" => "156"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/8929954"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            5 => array:3 [
              "identificador" => "bib0030"
              "etiqueta" => "6&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Nibrin&#44; a novel DNA double-strand break repair protein&#44; is mutated in Nijmegen breakage syndrome"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "R&#46; Varon"
                            1 => "C&#46; Vissinga"
                            2 => "M&#46; Platzer"
                            3 => "K&#46;M&#46; Cerosaletti"
                            4 => "K&#46;H&#46; Chrzanowska"
                            5 => "K&#46; Saar"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "Cell"
                        "fecha" => "1998"
                        "volumen" => "93"
                        "paginaInicial" => "467"
                        "paginaFinal" => "476"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9590180"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            6 => array:3 [
              "identificador" => "bib0035"
              "etiqueta" => "7&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Positional cloning of the gene for Nijmegen breakage syndrome"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "S&#46; Matsuura"
                            1 => "H&#46; Tauchi"
                            2 => "A&#46; Nakamura"
                            3 => "N&#46; Kondo"
                            4 => "S&#46; Sakamoto"
                            5 => "S&#46; Endo"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1038/549"
                      "Revista" => array:6 [
                        "tituloSerie" => "Nat Genet"
                        "fecha" => "1998"
                        "volumen" => "19"
                        "paginaInicial" => "179"
                        "paginaFinal" => "181"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9620777"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            7 => array:3 [
              "identificador" => "bib0040"
              "etiqueta" => "8&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Chromosomal breakage syndromes"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:1 [
                            0 => "P&#46; Carney"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1016/S0952-7915(99)80074-0"
                      "Revista" => array:6 [
                        "tituloSerie" => "Curr Opin Immunol"
                        "fecha" => "1999"
                        "volumen" => "11"
                        "paginaInicial" => "443"
                        "paginaFinal" => "447"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/10448147"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            8 => array:3 [
              "identificador" => "bib0045"
              "etiqueta" => "9&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "The hMre11&#47;hRad50 protein complex and Nijmegen breakage syndrome&#58; Linkage of double-strand break repair to the cellular DNA damage response"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "J&#46;P&#46; Carney"
                            1 => "R&#46;S&#46; Maser"
                            2 => "H&#46; Olivares"
                            3 => "E&#46;M&#46; Davis"
                            4 => "M&#46; Le Beau"
                            5 => "J&#46;R&#46; Yates 3rd"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "Cell"
                        "fecha" => "1998"
                        "volumen" => "93"
                        "paginaInicial" => "477"
                        "paginaFinal" => "486"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9590181"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            9 => array:3 [
              "identificador" => "bib0050"
              "etiqueta" => "10&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Non-Hodgkin&#39;s lymphoma in pediatric patients with chromosomal breakage syndromes &#40;AT and NBS&#41;&#58; Experience from the BFM trials"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "K&#46; Seidemann"
                            1 => "G&#46; Henze"
                            2 => "J&#46;D&#46; Beck"
                            3 => "A&#46; Sauerbrey"
                            4 => "J&#46; Kuhl"
                            5 => "G&#46; Mann"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "Ann Oncol"
                        "fecha" => "2000"
                        "volumen" => "11"
                        "paginaInicial" => "141"
                        "paginaFinal" => "145"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/11079131"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            10 => array:3 [
              "identificador" => "bib0055"
              "etiqueta" => "11&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Nijmegen breakage syndrome-associated T-cell-rich B-cell lymphoma&#58; Case report"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "M&#46; Paulli"
                            1 => "A&#46; Viglio"
                            2 => "E&#46; Boveri"
                            3 => "A&#46; Pitino"
                            4 => "M&#46; Lucioni"
                            5 => "C&#46; Franco"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "Pediatr Dev Pathol"
                        "fecha" => "2000"
                        "volumen" => "3"
                        "paginaInicial" => "264"
                        "paginaFinal" => "270"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/10742414"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            11 => array:3 [
              "identificador" => "bib0060"
              "etiqueta" => "12&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Lymphoproliferative disorders associated with congenital immunodeficiencies"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:2 [
                            0 => "K&#46;S&#46;J&#46; Elenitoba-Johnson"
                            1 => "E&#46;S&#46; Jaffe"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "Semin Diagn Pathol"
                        "fecha" => "1997"
                        "volumen" => "14"
                        "paginaInicial" => "35"
                        "paginaFinal" => "47"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/9044508"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            12 => array:3 [
              "identificador" => "bib0065"
              "etiqueta" => "13&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Eleven Polish patients with microcephaly&#44; immunodeficiency&#44; and chromosomal instability&#58; The Nijmegen breakage syndrome"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "K&#46;H&#46; Chrzanowska"
                            1 => "W&#46;J&#46; Kleijer"
                            2 => "M&#46; Krajewska-Walasek"
                            3 => "M&#46; Bialecka"
                            4 => "A&#46; Gutkowska"
                            5 => "B&#46; Goryluk-Kozakiewicz"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1002/ajmg.1320570321"
                      "Revista" => array:6 [
                        "tituloSerie" => "Am J Med Genet"
                        "fecha" => "1995"
                        "volumen" => "57"
                        "paginaInicial" => "462"
                        "paginaFinal" => "471"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/7545870"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            13 => array:3 [
              "identificador" => "bib0070"
              "etiqueta" => "14&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Therapy for non-Hodgkin lymphoma in children with primary immunodeficiency&#58; Analysis of 19 patients from the BFM trials"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:6 [
                            0 => "K&#46; Seidemann"
                            1 => "M&#46; Tiemann"
                            2 => "G&#46; Henze"
                            3 => "A&#46; Sauerbrey"
                            4 => "S&#46; Muller"
                            5 => "A&#46; Reiter"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "Med Pediatr Oncol"
                        "fecha" => "1999"
                        "volumen" => "33"
                        "paginaInicial" => "536"
                        "paginaFinal" => "544"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/10573576"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            14 => array:3 [
              "identificador" => "bib0075"
              "etiqueta" => "15&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "No evidence for deletions of the NBS1 gene in lymphomas"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "M&#46; Stumm"
                            1 => "A&#46; Von Ruskowsky"
                            2 => "R&#46; Siebert"
                            3 => "S&#46; Harder"
                            4 => "R&#46; Varon"
                            5 => "P&#46; Wieacker"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "Cancer Genet Cytogenet"
                        "fecha" => "2001"
                        "volumen" => "126"
                        "paginaInicial" => "60"
                        "paginaFinal" => "62"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/11343781"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            15 => array:3 [
              "identificador" => "bib0080"
              "etiqueta" => "16&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Primary pulmonary lymphoma"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:4 [
                            0 => "T&#46;M&#46; Habermann"
                            1 => "J&#46;H&#46; Rvu"
                            2 => "D&#46;J&#46; Inwards"
                            3 => "P&#46;J&#46; Kurtin"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "Semin Oncol"
                        "fecha" => "1999"
                        "volumen" => "26"
                        "paginaInicial" => "307"
                        "paginaFinal" => "315"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/10375087"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            16 => array:3 [
              "identificador" => "bib0085"
              "etiqueta" => "17&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Primary non-Hodgkin&#39;s lymphoma of the lung"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:6 [
                            0 => "P&#46; Ferraro"
                            1 => "V&#46;F&#46; Trastek"
                            2 => "H&#46; Adlakha"
                            3 => "C&#46; Deschamps"
                            4 => "M&#46;S&#46; Allen"
                            5 => "P&#46;C&#46; Pairolero"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "Revista" => array:6 [
                        "tituloSerie" => "Ann Thorac Surg"
                        "fecha" => "2000"
                        "volumen" => "69"
                        "paginaInicial" => "993"
                        "paginaFinal" => "997"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/10800781"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            17 => array:3 [
              "identificador" => "bib0090"
              "etiqueta" => "18&#46;"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Virus de Epstein-Barr y linfomas&#58; prevalencia&#44; patog&#233;nesis y aspectos cl&#237;nicos&#46; En&#58; S&#237;ndromes linfoproliferativos&#44; 1&#46;<span class="elsevierStyleSup">a</span> ed"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => false
                          "autores" => array:5 [
                            0 => "J&#46;J&#46; Ondejans"
                            1 => "A&#46; Brink"
                            2 => "A&#46;J&#46;C&#46; Van de Brule"
                            3 => "J&#46;M&#46; Middledorg"
                            4 => "C&#46;J&#46;L&#46; Meijer"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:1 [
                      "LibroEditado" => array:3 [
                        "paginaInicial" => "59"
                        "paginaFinal" => "68"
                        "serieFecha" => "1999"
                      ]
                    ]
                  ]
                ]
              ]
            ]
          ]
        ]
      ]
    ]
  ]
  "idiomaDefecto" => "es"
  "url" => "/16954033/0000005700000006/v1_201307051720/S1695403302787195/v1_201307051720/es/main.assets"
  "Apartado" => array:4 [
    "identificador" => "14441"
    "tipo" => "SECCION"
    "es" => array:2 [
      "titulo" => "Notas cl&#237;nicas"
      "idiomaDefecto" => true
    ]
    "idiomaDefecto" => "es"
  ]
  "PDF" => "https://static.elsevier.es/multimedia/16954033/0000005700000006/v1_201307051720/S1695403302787195/v1_201307051720/es/main.pdf?idApp=UINPBA00005H&text.app=https://analesdepediatria.org/"
  "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S1695403302787195?idApp=UINPBA00005H"
]
Compartir
Información de la revista
Vol. 57. Núm. 6.
Páginas 574-577 (diciembre 2002)
Compartir
Compartir
Descargar PDF
Más opciones de artículo
Vol. 57. Núm. 6.
Páginas 574-577 (diciembre 2002)
Acceso a texto completo
Linfoma pulmonar asociado a síndrome de Nijmegen
Nijmegen breakage syndrome associated with pulmonary lymphoma
Visitas
14363
D. Moreno Péreza,
Autor para correspondencia
dmorenop@wanadoo.es

Correspondencia: Santa Julia, 10. 29640 Fuengirola. Málaga. España.
, F.J. García Martína, R. Vázquez Lópeza, E. Pérez Ruizb, M.E. González Valentínc, B. Weil Larad, A. Jurado Ortiza
a Unidades de Infectología e Inmunodeficiencias Pediátricas Hospital Materno-Infantil. Complejo Hospitalario Carlos Haya. Málaga. España
b Unidades de Neumología Pediátrica. Neumología Pediátrica. Hospital Materno-Infantil. Complejo Hospitalario Carlos Haya. Málaga. España
c Servicios de Hematología Infantil Hospital Materno-Infantil. Complejo Hospitalario Carlos Haya. Málaga. España
d Servicios de Anatomía Patológica. Hospital Materno-Infantil. Complejo Hospitalario Carlos Haya. Málaga. España
Este artículo ha recibido
Información del artículo
Resumen
Bibliografía
Descargar PDF
Estadísticas

El síndrome de Nijmegen es una rara entidad autosómica recesiva caracterizada por un síndrome dismórfico peculiar (microcefalia, cara de pájaro, talla corta), inmunodeficiencia combinada acompañada de infecciones recurrentes, hipersensibilidad a las radiaciones ionizantes y predisposición a la aparición de neoplasias, sobre todo linfomas, debido a inestabilidad cromosómica por anomalías en los mecanismos de reparación de las roturas del ADN.

Se presenta el caso de un paciente de 6 años con síndrome de Nijmegen, que en su evolución desarrolló un linfoma no hodgkiniano de células B grandes de localización pulmonar sin afectación ganglionar.

Palabras clave:
Síndrome de Nijmegen
Roturas cromosómicas
Inmunodeficiencia primaria
Linfoma no hodgkiniano
Linfoma de células B rico en células T

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.

Key words:
Nijmegen breakage syndrome
Chromosome breakage
Primary immunodeficiency
Non-Hodgkin's lymphoma
T-cell-rich B-cell lymphoma
El Texto completo está disponible en PDF
Bibliografía
[1.]
C.M.R. Weemaes, T.W.J. Hustinx, J.M.J.C. Scheres, P.J.J. Van Munster.
Bakkeren JAJM, Taalmann RDFM. A new chromosomal instability disorder: The Nijmegen breakage syndrome.
Acta Paediatr Scand, 70 (1981), pp. 557-564
[2.]
The International Nijmegen Breakage Syndrome Study Group.
Nijmegen breakage syndrome.
Arch Dis Child, 82 (2000), pp. 400-406
[3.]
M.A. Garcia-Perez, L.M. Allende, A. Corell, E. Paz-Artal, P. Varela, A. Lopez-Goyanes, et al.
Role of Nijmegen breakage syndrome protein in specific T-lymphocyte activation pathways.
Clin Diagn Lab Immunol, 8 (2001), pp. 757-761
[4.]
M. Futaki, J.M. Liu.
Chromosomal breakage syndromes and the BRCA1 genome surveillance complex.
Trends Mol Med, 7 (2001), pp. 560-565
[5.]
I. Van der Burgt, K.H. Chrzanowska, D. Smeets.
Weemaes CMR. Nijmegen breakage syndrome.
J Med Genet, 33 (1996), pp. 153-156
[6.]
R. Varon, C. Vissinga, M. Platzer, K.M. Cerosaletti, K.H. Chrzanowska, K. Saar, et al.
Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome.
Cell, 93 (1998), pp. 467-476
[7.]
S. Matsuura, H. Tauchi, A. Nakamura, N. Kondo, S. Sakamoto, S. Endo, et al.
Positional cloning of the gene for Nijmegen breakage syndrome.
Nat Genet, 19 (1998), pp. 179-181
[8.]
P. Carney.
Chromosomal breakage syndromes.
Curr Opin Immunol, 11 (1999), pp. 443-447
[9.]
J.P. Carney, R.S. Maser, H. Olivares, E.M. Davis, M. Le Beau, J.R. Yates 3rd, et al.
The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: Linkage of double-strand break repair to the cellular DNA damage response.
Cell, 93 (1998), pp. 477-486
[10.]
K. Seidemann, G. Henze, J.D. Beck, A. Sauerbrey, J. Kuhl, G. Mann, et al.
Non-Hodgkin's lymphoma in pediatric patients with chromosomal breakage syndromes (AT and NBS): Experience from the BFM trials.
Ann Oncol, 11 (2000), pp. 141-145
[11.]
M. Paulli, A. Viglio, E. Boveri, A. Pitino, M. Lucioni, C. Franco, et al.
Nijmegen breakage syndrome-associated T-cell-rich B-cell lymphoma: Case report.
Pediatr Dev Pathol, 3 (2000), pp. 264-270
[12.]
K.S.J. Elenitoba-Johnson, E.S. Jaffe.
Lymphoproliferative disorders associated with congenital immunodeficiencies.
Semin Diagn Pathol, 14 (1997), pp. 35-47
[13.]
K.H. Chrzanowska, W.J. Kleijer, M. Krajewska-Walasek, M. Bialecka, A. Gutkowska, B. Goryluk-Kozakiewicz, et al.
Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: The Nijmegen breakage syndrome.
Am J Med Genet, 57 (1995), pp. 462-471
[14.]
K. Seidemann, M. Tiemann, G. Henze, A. Sauerbrey, S. Muller, A. Reiter.
Therapy for non-Hodgkin lymphoma in children with primary immunodeficiency: Analysis of 19 patients from the BFM trials.
Med Pediatr Oncol, 33 (1999), pp. 536-544
[15.]
M. Stumm, A. Von Ruskowsky, R. Siebert, S. Harder, R. Varon, P. Wieacker, et al.
No evidence for deletions of the NBS1 gene in lymphomas.
Cancer Genet Cytogenet, 126 (2001), pp. 60-62
[16.]
T.M. Habermann, J.H. Rvu, D.J. Inwards, P.J. Kurtin.
Primary pulmonary lymphoma.
Semin Oncol, 26 (1999), pp. 307-315
[17.]
P. Ferraro, V.F. Trastek, H. Adlakha, C. Deschamps, M.S. Allen, P.C. Pairolero.
Primary non-Hodgkin's lymphoma of the lung.
Ann Thorac Surg, 69 (2000), pp. 993-997
[18.]
J.J. Ondejans, A. Brink, A.J.C. Van de Brule, J.M. Middledorg, C.J.L. Meijer.
Virus de Epstein-Barr y linfomas: prevalencia, patogénesis y aspectos clínicos. En: Síndromes linfoproliferativos, 1.a ed.
pp. 59-68
Copyright © 2002. Asociación Española de Pediatría
Descargar PDF
Idiomas
Anales de Pediatría
Opciones de artículo
Herramientas
es en

¿Es usted profesional sanitario apto para prescribir o dispensar medicamentos?

Are you a health professional able to prescribe or dispense drugs?