Associated Papers
Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.
Jauch AJ et al.
The Journal of Allergy and Clinical Immunology, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1
SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.
Barreiros LA et al.
Journal of Clinical Immunology, 2022
Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases.
Castro ACE et al.
Frontiers in Immunology, 2022
Allogeneic hematopoietic stem cell transplantation in two brothers with DNA ligase IV deficiency: a case report and review of the literature.
Schober S et al.
Bmc Pediatrics, 2019
Unique heterozygous presentation in an infant with DNA ligase IV syndrome.
Brunet BA et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2017
The DNA Ligase IV Syndrome R278H Mutation Impairs B Lymphopoiesis via Error-Prone Nonhomologous End-Joining.
Park J et al.
Journal of Immunology (baltimore, Md. : 1950), 2016
Extreme growth failure is a common presentation of ligase IV deficiency.
Murray JE et al.
Human Mutation, 2014
Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.
IJspeert H et al.
Human Mutation, 2013
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