Work

A Chinese Girl With LIG4 Syndrome and Hematopoietic Stem Cell Transplantation: A Rare Case Report and Review of the Literature

Year: 2024

Type: article

Abstract: LIG4 syndrome is an exceptionally rare primary immune deficiency. It is an autosomal recessive genetic disease, falling within the spectrum of genetic disorders characterized by impaired DNA damage response mechanisms. Common clinical characteristics encompass microcephaly, growth retardation, developmental delays, facial deformities, variable immune deficiencies, pancytopenia, heightened susceptibility to malignant tumors, and significant clinical and cellular radiosensitivity. Hematopoietic stem cell transplantation (HSCT) is a curative treatment for LIG4 syndrome and may mitigate the long-term risk of developing lymphoid malignancies by improving tumor surveillance.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.70007

Authors: Chenjia Jiang, Wenyang Wang, Yazhou Li, Xiwang Liu, Zhirui Zhu

Institutions: Children's Hospital of Zhejiang University, Zhejiang University, Fudan University, Huadong Hospital

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,730