ArticleRadiology case reports2021
A case report of an adolescent with ligase-4 deficiency and the potential dangers of ionizing radiation in this rare patient population.
Article in Radiology case reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 5 citations in OpenAlex.
- A Chinese Girl With LIG4 Syndrome and Hematopoietic Stem Cell Transplantation: A Rare Case Report and Review of the Literature.Clinical case reports · 2024Article
- Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.The Journal of allergy and clinical immunology · 2023Article
- Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases.Frontiers in immunology · 2022Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
DNA ligase IV deficiency is a rare disorder characterized by mutations in the LIG4 gene. Mutations in this gene cause a wide array of phenotypes, many of which are fatal early in life. We present an adolescent patient with heterozygous LIG4 mutations and the T-B-NK+ DNA ligase IV phenotype. Pelvic ultrasound and magnetic resonance imaging was completed to assess the patient's amenorrhea and delayed puberty, which demonstrated an atrophic cervix, distal vagina, and uterus without direct visualization of the ovaries. Early diagnosis of DNA ligase IV deficiency is important to minimize exposure to ionizing radiation from radiologic studies and preferentially utilize imaging studies that do not require ionizing radiation, such as ultrasonography and magnetic resonance imaging.
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