Late-onset combined immune deficiency due to LIGIV mutations in a 12-year-old patient

Pediatr Allergy Immunol. 2017 Mar;28(2):203-206. doi: 10.1111/pai.12684.

Authors

Affiliations

¹ Department of Systems Medicine, University of Rome Tor Vergata, Rome, Italy.
² University Department of Pediatrics, Unit of Immune and Infectious Diseases, Childrens' Hospital Bambino Gesù, Rome, Italy.
³ Department of Science, Univeristy of Roma Tre, Rome, Italy.
⁴ 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.

PMID: 27893162
DOI: 10.1111/pai.12684

No abstract available

Keywords: atypical DNA ligase IV deficiency; immunodeficiency; normal development; radiosensitivity.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Child
DNA Ligase ATP / deficiency
DNA Ligase ATP / genetics*
DNA Repair
Humans
Male
Mutation
Severe Combined Immunodeficiency / diagnosis*

Substances

LIG4 protein, human
DNA Ligase ATP