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Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.
Staines Boone, Aidé Tamara; Chinn, Ivan K; Alaez-Versón, Carmen; Yamazaki-Nakashimada, Marco A; Carrillo-Sánchez, Karol; García-Cruz, María de la Luz Hortensia; Poli, M Cecilia; González Serrano, M Edith; Medina Torres, Edgar A; Muzquiz Zermeño, David; Forbes, Lisa R; Espinosa-Rosales, Francisco J; Espinosa-Padilla, Sara E; Orange, Jordan S; Lugo Reyes, Saul Oswaldo.
Afiliação
  • Staines Boone AT; Immunology Department at Hospital de Especialidades, UMAE 25 IMSS, Monterrey, Mexico.
  • Chinn IK; Center for Human Immunobiology, Texas Children's Hospital, Houston, TX, United States.
  • Alaez-Versón C; Department of Pediatrics, Baylor College of Medicine, Houston, TX, United States.
  • Yamazaki-Nakashimada MA; Genomic Diagnostic Laboratory at the National Institute for Genomic Medicine (INMEGEN), Mexico City, Mexico.
  • Carrillo-Sánchez K; Clinical Immunology Department, National Institute of Pediatrics, Mexico City, Mexico.
  • García-Cruz MLH; Genomic Diagnostic Laboratory at the National Institute for Genomic Medicine (INMEGEN), Mexico City, Mexico.
  • Poli MC; Otolaryngology Department at the National Institute of Respiratory Diseases (INER), Mexico City, Mexico.
  • González Serrano ME; Center for Human Immunobiology, Texas Children's Hospital, Houston, TX, United States.
  • Medina Torres EA; Universidad del Desarrollo, Clínica Alemana de Santiago, Santiago de Chile, Chile.
  • Muzquiz Zermeño D; Immunodeficiencies Research Unit at the National Institute of Pediatrics (INP), Mexico City, Mexico.
  • Forbes LR; Immunodeficiencies Research Unit at the National Institute of Pediatrics (INP), Mexico City, Mexico.
  • Espinosa-Rosales FJ; Immunology Department at Hospital de Especialidades, UMAE 25 IMSS, Monterrey, Mexico.
  • Espinosa-Padilla SE; Center for Human Immunobiology, Texas Children's Hospital, Houston, TX, United States.
  • Orange JS; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, United States.
  • Lugo Reyes SO; Immunodeficiencies Research Unit at the National Institute of Pediatrics (INP), Mexico City, Mexico.
Front Pediatr ; 6: 426, 2018.
Article em En | MEDLINE | ID: mdl-30719430
DNA repair defects are inborn errors of immunity that result in increased apoptosis and oncogenesis. DNA Ligase 4-deficient patients suffer from a wide range of clinical manifestations since early in life, including: microcephaly, dysmorphic facial features, growth failure, developmental delay, mental retardation; hip dysplasia, and other skeletal malformations; as well as a severe combined immunodeficiency, radiosensitivity, and progressive bone marrow failure; or, they may present later in life with hematological neoplasias that respond catastrophically to chemo- and radiotherapy; or, they could be asymptomatic. We describe the clinical, laboratory, and genetic features of five Mexican patients with LIG4 deficiency, together with a review of 36 other patients available in PubMed Medline. Four out of five of our patients are dead from lymphoma or bone marrow failure, with severe infection and massive bleeding; the fifth patient is asymptomatic despite a persistent CD4+ lymphopenia. Most patients reported in the literature are microcephalic females with growth failure, sinopulmonary infections, hypogammaglobulinemia, very low B-cells, and radiosensitivity; while bone marrow failure and malignancy may develop at a later age. Dysmorphic facial features, congenital hip dysplasia, chronic liver disease, gradual pancytopenia, lymphoma or leukemia, thrombocytopenia, and gastrointestinal bleeding have been reported as well. Most mutations are compound heterozygous, and all of them are hypomorphic, with two common truncating mutations accounting for the majority of patients. Stem-cell transplantation after reduced intensity conditioning regimes may be curative.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Front Pediatr Ano de publicação: 2018 Tipo de documento: Article País de afiliação: México País de publicação: Suíça

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Front Pediatr Ano de publicação: 2018 Tipo de documento: Article País de afiliação: México País de publicação: Suíça