DNA ligase IV dificiency with elevated serum IgG levels suspected to have myelodysplastic syndrome: a case report

BACKGROUND: Ligase IV (LIG4) dificiency is a very rare clinical syndrome with around 50 cases reported to date. This syndrome is caused by biallelic pathogenic variants in the LIG4 gene, which cause DNA damage repair disorders, mainly manifesting as severe immunodeficiency. CASE PRESENTATION: We rep...

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Detalles Bibliográficos
Autores principales: Huang, Miao, Dong, Guoqing, Lu, Xiyan, Xiao, Fei, Zhou, Qixin, Zhang, Shaoyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9552496/
https://www.ncbi.nlm.nih.gov/pubmed/36221079
http://dx.doi.org/10.1186/s12887-022-03655-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9552496/
https://www.ncbi.nlm.nih.gov/pubmed/36221079
http://dx.doi.org/10.1186/s12887-022-03655-x

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