A Chinese Girl With LIG4 Syndrome and Hematopoietic Stem Cell Transplantation: A Rare Case Report and Review of the Literature
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 retardati...
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| Format: | Article |
| Language: | English |
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Wiley
2024-12-01
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| Series: | Clinical Case Reports |
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| Online Access: | https://doi.org/10.1002/ccr3.70007 |
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| author | Chenjia Jiang Wenyang Wang Yazhou Li Xiwang Liu Zhirui Zhu |
| author_facet | Chenjia Jiang Wenyang Wang Yazhou Li Xiwang Liu Zhirui Zhu |
| author_sort | Chenjia Jiang |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-4fcd2f8792eb4cfd87b3f762abedb01f |
| institution | OA Journals |
| issn | 2050-0904 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj-art-4fcd2f8792eb4cfd87b3f762abedb01f2025-08-20T01:57:20ZengWileyClinical Case Reports2050-09042024-12-011212n/an/a10.1002/ccr3.70007A Chinese Girl With LIG4 Syndrome and Hematopoietic Stem Cell Transplantation: A Rare Case Report and Review of the LiteratureChenjia Jiang0Wenyang Wang1Yazhou Li2Xiwang Liu3Zhirui Zhu4Department of Anesthesiology Children's Hospital, Zhejiang University School of Medicine Hangzhou ChinaDepartment of Anesthesiology Children's Hospital, Zhejiang University School of Medicine Hangzhou ChinaDepartment of Clinical Laboratory Huadong Hospital, Fudan University Shanghai ChinaDepartment of Cardiac Surgery Children's Hospital, Zhejiang University School of Medicine Hangzhou ChinaDepartment of Anesthesiology Children's Hospital, Zhejiang University School of Medicine Hangzhou ChinaABSTRACT 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.https://doi.org/10.1002/ccr3.70007combined immunodeficiencyDNA ligase 4 syndromehematopoietic stem cell transplantationpediatrics |
| spellingShingle | Chenjia Jiang Wenyang Wang Yazhou Li Xiwang Liu Zhirui Zhu A Chinese Girl With LIG4 Syndrome and Hematopoietic Stem Cell Transplantation: A Rare Case Report and Review of the Literature Clinical Case Reports combined immunodeficiency DNA ligase 4 syndrome hematopoietic stem cell transplantation pediatrics |
| title | A Chinese Girl With LIG4 Syndrome and Hematopoietic Stem Cell Transplantation: A Rare Case Report and Review of the Literature |
| title_full | A Chinese Girl With LIG4 Syndrome and Hematopoietic Stem Cell Transplantation: A Rare Case Report and Review of the Literature |
| title_fullStr | A Chinese Girl With LIG4 Syndrome and Hematopoietic Stem Cell Transplantation: A Rare Case Report and Review of the Literature |
| title_full_unstemmed | A Chinese Girl With LIG4 Syndrome and Hematopoietic Stem Cell Transplantation: A Rare Case Report and Review of the Literature |
| title_short | A Chinese Girl With LIG4 Syndrome and Hematopoietic Stem Cell Transplantation: A Rare Case Report and Review of the Literature |
| title_sort | chinese girl with lig4 syndrome and hematopoietic stem cell transplantation a rare case report and review of the literature |
| topic | combined immunodeficiency DNA ligase 4 syndrome hematopoietic stem cell transplantation pediatrics |
| url | https://doi.org/10.1002/ccr3.70007 |
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