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Article

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

BMC pediatrics - 11 Oct 2022

Huang Miao, Dong Guoqing, Lu Xiyan, Xiao Fei, Zhou Qixin, Zhang Shaoyi

Abstract excerpt

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 report the case of a 15-month-old male child with pancytopenia, growth retardation, microcephaly, history of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36221079
DOI: 10.1186/s12887-022-03655-x
PMCID: PMC9552496

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