ArticleHuman mutation2013
Clinical spectrum of LIG4 deficiency is broadened with severe dysmaturity, primordial dwarfism, and neurological abnormalities.
Article in Human mutation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 34 citations in OpenAlex.
- Inborn errors of immunity with DNA repair disorders: at the interface of immune deficiency, immune dysregulation, and malignancy.Frontiers in immunology · 2026Review
- Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.The Journal of allergy and clinical immunology · 2023Article
- SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.Journal of clinical immunology · 2022Article
- Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases.Frontiers in immunology · 2022Article
- Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population.Frontiers in immunology · 2021Article
- Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations.European journal of medical genetics · 2020Article
- LIG4 syndrome: clinical and molecular characterization in a Chinese cohort.Orphanet journal of rare diseases · 2020Article
- Spatiotemporal Gradient of Cortical Neuron Death Contributes to Microcephaly in Knock-In Mouse Model of Ligase 4 Syndrome.The American journal of pathology · 2019Article
- Differential mechanisms of tolerance to extreme environmental conditions in tardigrades.Scientific reports · 2019Article
- Allogeneic hematopoietic stem cell transplantation in two brothers with DNA ligase IV deficiency: a case report and review of the literature.BMC pediatrics · 2019Review
- A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet's Disease.Journal of clinical immunology · 2019Article
- Failing to Make Ends Meet: The Broad Clinical Spectrum of DNA Ligase IV Deficiency. Case Series and Review of the Literature.Frontiers in pediatrics · 2018Article
- Neurological Manifestations of Primary Immunodeficiencies.Iranian journal of child neurology · 2018Review
- Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.Current osteoporosis reports · 2017Review
- Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.BMC medical genetics · 2016Article
- DNA ligase IV syndrome; a review.Orphanet journal of rare diseases · 2016Review
- Article
- Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.Journal of clinical immunology · 2016Article
- The DNA Ligase IV Syndrome R278H Mutation Impairs B Lymphopoiesis via Error-Prone Nonhomologous End-Joining.Journal of immunology (Baltimore, Md. : 1950) · 2016Article
- Mutations in the NHEJ component XRCC4 cause primordial dwarfism.American journal of human genetics · 2015Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
DNA double-strand break repair via non-homologous end joining (NHEJ) is involved in recombination of immunoglobulin and T-cell receptor genes. Mutations in NHEJ components result in syndromes that are characterized by microcephaly and immunodeficiency. We present a patient with lymphopenia, extreme radiosensitivity, severe dysmaturity, corpus callosum agenesis, polysyndactily, dysmorphic appearance, and erythema, which are suggestive of a new type of NHEJ deficiency. We identified two heterozygous mutations in LIG4. The p.S205LfsX29 mutation results in lack of the nuclear localization signal and appears to be a null mutation. The second mutation p.K635RfsX10 lacks the C-terminal region responsible for XRCC4 binding and LIG4 stability and activity, and therefore this mutant might be a null mutation as well or have very low residual activity. This is remarkable since Lig4 knockout mice are embryonic lethal and so far in humans no complete LIG4 deficiencies have been described. This case broadens the clinical spectrum of LIG4 deficiencies.
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