№ files_lp_3_process_7_007332
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Clinical and molecular genetic research article describing a Chinese pediatric case with a homozygous HOIP frameshift mutation associated with impaired NF-kappaB signaling, recurrent severe infections, and altered cellular response to TNF-induced death.
Authors: Mengru Wang; Ying Bai; Dan Jiang; Yue Wang; Yingchao Zhou; Mengchen Zhou; Yilin Chen; Chenguang Yu; Xiangyi Wang; Qiang Guo; Lingfeng Zha; Qianqian Li; Zhubing Cao; Jianfei Wu; Shumei Shi; Qing Wang; Chengqi Xu; Xiangdong Kong; Xin Tu
Affiliations: Key Laboratory of Molecular Biophysics of the Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China; Genetic and Prenatal Diagnosis Center, First Affiliated Hospital of Zhengzhou University, Zhengzhou, China; Qingdao Women and Children’s Hospital, Qingdao University, Qingdao, China; Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China; Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China
Correspondence: Xin Tu ([email protected]
Note: )
Country: China
Study Type: Clinical and molecular genetic research study
Subject: 12-year-old male patient of Chinese ancestry
Genetic Focus: HOIP (RNF31) frameshift mutation c.1882delG
Comparison Cases: HOIP-1; HOIP-2
Pathway Analyzed: NF-kappaB signaling pathway; TNF-induced cell death
Clinical Features: Recurrent infections; necrotizing lymphadenitis; Epstein-Barr virus infection; lobar pneumonia; splenomegaly; immunoglobulin subclass deficiency
Laboratory Analyses: Immunological evaluation; viral testing; lymph node biopsy; bone marrow aspiration; gene panel analysis
Treatment: Intravenous immunoglobulin; antibiotics; anti-inflammatory therapy
Supplementary Materials: Table S1 (List of analyzed genes); Table S2 (Summary of clinical phenotype of patients with HOIP mutations); Figure S1 (LUBAC binding assay)
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