Article
An atypical adolescent case of leukocyte adhesion deficiency I caused by a novel ITGB2 splicing variant with successful immune reconstitution following hematopoietic stem cell transplantation.
Clinical and experimental immunology - 21 Jan 2025
Zhu Guanghua, Yue Honghong, He Jianxin, Wang Caisheng, Xu Chen, Jia Chenguang, Wang Xiaolin, Yan Yan, Wang Bin, Zhang Hui, Chen Xi, Qiu Jianping, Gao Liwei, Zheng Jie, Lv Ge, Yang Jun, Luo Yanhui, Qin Maoquan, Gui Jingang, Mou Wenjun
Abstract excerpt
Leukocyte adhesion deficiency I (LAD-I) is an autosomal recessive immunodeficiency caused by mutations in the ITGB2 gene, characterized by recurrent severe infections, impaired pus formation, and delayed wound healing. In this study, we describe a late-onset presentation of LAD-I in a 22-year-old male who initially exhibited marked leukocytosis and neonatal omphalitis, followed by recurrent upper respiratory...
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