Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.

doi:10.1016/j.jaci.2023.03.022

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Article

Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.

The Journal of allergy and clinical immunology - 1 Aug 2023

Jauch Annaïse J, Bignucolo Olivier, Seki Sayuri, Ghraichy Marie, Delmonte Ottavia M, von Niederhäusern Valentin, Higgins Rebecca, Ghosh Adhideb, Nishizawa Masako, Tanaka Mariko, Baldrich Adrian, Köppen Julius, Hirsiger Julia R, Hupfer Robin, Ehl Stephan, Rensing-Ehl Anne, Hopfer Helmut, Prince Spasenija Savic, Daley Stephen R, Marquardsen Florian A, Meyer Benedikt J, Tamm Michael, Daikeler Thomas D, Diesch Tamara, Kühne Thomas, Helbling Arthur, Berkemeier Caroline, Heijnen Ingmar, Navarini Alexander A, Trück Johannes, de Villartay Jean-Pierre, Oxenius Annette, Berger Christoph T, Hess Christoph, Notarangelo Luigi D, Yamamoto Hiroyuki, Recher Mike

Abstract excerpt

BACKGROUND: Biallelic mutations in LIG4 encoding DNA-ligase 4 cause a rare immunodeficiency syndrome manifesting as infant-onset life-threatening and/or opportunistic infections, skeletal malformations, radiosensitivity and neoplasia. LIG4 is pivotal during DNA repair and during V(D)J recombination as it performs the final DNA-break sealing step. OBJECTIVES: This study explored whether monoallelic LIG4 missense...

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Identifiers

PMID: 37004747
DOI: 10.1016/j.jaci.2023.03.022
PMCID: PMC10529397

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