Double-strand break repair through homologous recombination in autosomal-recessive BCL10 deficiency

Sonia García-Gómez; Rebeca Chaparro; Amin Safa; Ana Van Den Rym; Rubén Martinez-Barricarte; Lazaro Lorenzo; Silvia Sánchez-Ramón; Victor Toledano; Carolina Cubillos-Zapata; Eduardo López-Collazo; Maria Dolores Martín-Arranz; Eduardo Martín-Arranz; Maria Vela; Pablo Gonzalez-Navarro; Antonio Pérez-Martínez; Jean-Laurent Casanova; Maria José Recio; Rebeca Pérez de Diego

doi:10.1016/j.jaci.2018.12.1000

Double-strand break repair through homologous recombination in autosomal-recessive BCL10 deficiency

J Allergy Clin Immunol. 2019 May;143(5):1931-1934.e1. doi: 10.1016/j.jaci.2018.12.1000. Epub 2019 Jan 18.

Authors

Sonia García-Gómez¹, Rebeca Chaparro², Amin Safa³, Ana Van Den Rym¹, Rubén Martinez-Barricarte⁴, Lazaro Lorenzo⁵, Silvia Sánchez-Ramón⁶, Victor Toledano⁷, Carolina Cubillos-Zapata⁸, Eduardo López-Collazo⁷, Maria Dolores Martín-Arranz⁹, Eduardo Martín-Arranz⁹, Maria Vela¹⁰, Pablo Gonzalez-Navarro¹⁰, Antonio Pérez-Martínez¹¹, Jean-Laurent Casanova¹², Maria José Recio², Rebeca Pérez de Diego¹³

Affiliations

¹ Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz Hospital, Madrid, Spain; Innate Immunity Group, IdiPAZ Institute for Health Research, La Paz Hospital, Madrid, Spain.
² Department of Immunology, Ophthalmology and ENT, School of Medicine, Complutense University, 12 de Octubre Health Research Institute (imas12), Madrid, Spain.
³ Department of Immunology, Ophthalmology and ENT, School of Medicine, Complutense University, 12 de Octubre Health Research Institute (imas12), Madrid, Spain; Department of Immunology, School of Medicine, Zabol University of Medical Sciences, Zabol, Iran.
⁴ St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY.
⁵ Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Imagine Institute, Necker Hospital for Sick Children, Paris, France.
⁶ Clinical Immunology Department, San Carlos Clinical Hospital, Madrid, Spain.
⁷ Innate Immunity Group, IdiPAZ Institute for Health Research, La Paz Hospital, Madrid, Spain.
⁸ Innate Immunity Group, IdiPAZ Institute for Health Research, La Paz Hospital, Madrid, Spain; CIBER of Respiratory Diseases (CIBERES), Madrid, Spain.
⁹ Innate Immunity Group, IdiPAZ Institute for Health Research, La Paz Hospital, Madrid, Spain; Gastroenterology Department, La Paz Hospital, Madrid, Spain.
¹⁰ Traslational Research in Pediatric Oncology, Hematopoietic Stem Cell Transplantation, Cell Therapy, INGEMM-IdiPAZ, La Paz University Hospital, Madrid, Spain.
¹¹ Traslational Research in Pediatric Oncology, Hematopoietic Stem Cell Transplantation, Cell Therapy, INGEMM-IdiPAZ, La Paz University Hospital, Madrid, Spain; Department of Pediatric Hemato-Oncology and Stem Cell Transplantation, La Paz University Hospital, Madrid, Spain.
¹² St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Imagine Institute, Necker Hospital for Sick Children, Paris, France; University Paris Descartes, Paris, France; Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, Paris, France.
¹³ Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz Hospital, Madrid, Spain; Innate Immunity Group, IdiPAZ Institute for Health Research, La Paz Hospital, Madrid, Spain; CIBER of Respiratory Diseases (CIBERES), Madrid, Spain. Electronic address: [email protected].

PMID: 30660642
DOI: 10.1016/j.jaci.2018.12.1000

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

B-Cell CLL-Lymphoma 10 Protein / deficiency*
B-Cell CLL-Lymphoma 10 Protein / genetics
Cell Line
DNA Breaks, Double-Stranded*
DNA Repair*
Fibroblasts / drug effects
Fibroblasts / metabolism
Homologous Recombination
Humans
Hydrogen Peroxide / toxicity
Hydroxyurea / toxicity

Substances

B-Cell CLL-Lymphoma 10 Protein
BCL10 protein, human
Hydrogen Peroxide
Hydroxyurea