title: Late-onset combined immune deficiency due to LIGIV mutations in a 12-year-old patient.
authors.affiliation: Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Cifaldi
authors.affiliation: University Department of Pediatrics, Unit of Immune and Infectious Diseases, Childrens' Hospital Bambino Gesù, Rome, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Angelino
authors.affiliation: University Department of Pediatrics, Unit of Immune and Infectious Diseases, Childrens' Hospital Bambino Gesù, Rome, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Chiriaco
authors.affiliation: University Department of Pediatrics, Unit of Immune and Infectious Diseases, Childrens' Hospital Bambino Gesù, Rome, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Di Cesare
authors.affiliation: University Department of Pediatrics, Unit of Immune and Infectious Diseases, Childrens' Hospital Bambino Gesù, Rome, Italy.
authors.forename: Alessia
authors.initials: A
authors.lastname: Claps
authors.affiliation: University Department of Pediatrics, Unit of Immune and Infectious Diseases, Childrens' Hospital Bambino Gesù, Rome, Italy.
authors.forename: Jessica
authors.initials: J
authors.lastname: Serafinelli
authors.affiliation: Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.|University Department of Pediatrics, Unit of Immune and Infectious Diseases, Childrens' Hospital Bambino Gesù, Rome, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Rossi
authors.affiliation: Department of Science, Univeristy of Roma Tre, Rome, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Antoccia
authors.affiliation: Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
authors.forename: Gigliola
authors.initials: G
authors.lastname: Di Matteo
authors.affiliation: Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.|University Department of Pediatrics, Unit of Immune and Infectious Diseases, Childrens' Hospital Bambino Gesù, Rome, Italy.
authors.forename: Caterina
authors.initials: C
authors.lastname: Cancrini
authors.affiliation: Genome Dynamics in the Immune System Laboratory, Institut National de la Santé et de la Recherche Médicale, UMR 1163, Institut Imagine, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
authors.forename: Jean Pierre
authors.initials: JP
authors.lastname: De Villartay
authors.affiliation: Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.|University Department of Pediatrics, Unit of Immune and Infectious Diseases, Childrens' Hospital Bambino Gesù, Rome, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Finocchi
mesh_terms: D002648:Child; D000072481:DNA Ligase ATP / Q000172:deficiency / Q000235:genetics*; D004260:DNA Repair; D006801:Humans; D008297:Male; D009154:Mutation; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis*
chemical_list: C000607893:LIG4 protein, human; D000072481:DNA Ligase ATP
keywords: atypical DNA ligase IV deficiency; immunodeficiency; normal development; radiosensitivity