Bijun Sun1, Qiuyu Chen1, Xiaolong Dong1, Danru Liu1, Jia Hou1, Wenjie Wang1, Wenjing Ying1, Xiaoying Hui1, Qinhua Zhou1, Haili Yao1, Jinqiao Sun2, Xiaochuan Wang3. 1. Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China. 2. Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China. jinqiaosun@fudan.edu.cn. 3. Department of Clinical Immunology, Children's Hospital of Fudan University, 399 Wanyuan Road, Shanghai, 201102, China. xchwang@shmu.edu.cn.
Abstract
PURPOSE: We aimed to report the characteristics of leukocyte adhesion deficiency-I (LAD-I) and four novel mutations in the ITGB2 gene in a Chinese cohort. METHODS: Seven patients with LAD-I were reported in our study. Clinical manifestations and immunological phenotypes were reviewed. The expression of CD18 was detected by flow cytometry. Next-generation sequencing (NGS) and Sanger sequencing were performed to identify gene mutations. RESULTS: The mean onset age of all the patients was 1.3 months. Recurrent bacterial infections of the skin and lungs were the most common symptoms. Most patients (6/7) had delayed cord separation. The number of white blood cells (WBC) was increased significantly, except that two patients had a mild increase in the number of WBC during infection-free periods. The expression of CD18 was very low in all patients. Homozygous or compound heterozygous mutations in the ITGB2 gene were identified in each patient. Four mutations were novel, including c.1794dupC (p.N599Qfs*93), c.1788C>A (p.C596X), c.841-849del9, and c.741+1delG. Two patients had large deletions of the ITGB2 gene. Five patients were cured by hematopoietic stem cell transplantation (HSCT). CONCLUSIONS: This study reported the clinical and molecular characteristics of a Chinese patient cohort. It is helpful in understanding the current status of the disease in China.
PURPOSE: We aimed to report the characteristics of leukocyte adhesion deficiency-I (LAD-I) and four novel mutations in the ITGB2 gene in a Chinese cohort. METHODS: Seven patients with LAD-I were reported in our study. Clinical manifestations and immunological phenotypes were reviewed. The expression of CD18 was detected by flow cytometry. Next-generation sequencing (NGS) and Sanger sequencing were performed to identify gene mutations. RESULTS: The mean onset age of all the patients was 1.3 months. Recurrent bacterial infections of the skin and lungs were the most common symptoms. Most patients (6/7) had delayed cord separation. The number of white blood cells (WBC) was increased significantly, except that two patients had a mild increase in the number of WBC during infection-free periods. The expression of CD18 was very low in all patients. Homozygous or compound heterozygous mutations in the ITGB2 gene were identified in each patient. Four mutations were novel, including c.1794dupC (p.N599Qfs*93), c.1788C>A (p.C596X), c.841-849del9, and c.741+1delG. Two patients had large deletions of the ITGB2 gene. Five patients were cured by hematopoietic stem cell transplantation (HSCT). CONCLUSIONS: This study reported the clinical and molecular characteristics of a Chinese patient cohort. It is helpful in understanding the current status of the disease in China.
Authors: Edith van de Vijver; Anne Maddalena; Özden Sanal; Steven M Holland; Gulbu Uzel; Manisha Madkaikar; Martin de Boer; Karin van Leeuwen; M Yavuz Köker; Nima Parvaneh; Alain Fischer; S K Alex Law; Nigel Klein; F Ilhan Tezcan; Ekrem Unal; Turkan Patiroglu; Bernd H Belohradsky; Klaus Schwartz; Raz Somech; Taco W Kuijpers; Dirk Roos Journal: Blood Cells Mol Dis Date: 2011-11-30 Impact factor: 3.039
Authors: Dirk Roos; Christof Meischl; Martin de Boer; Suat Simsek; Ron S Weening; Ozden Sanal; Ilhan Tezcan; Tayfun Güngör; S K Alex Law Journal: Exp Hematol Date: 2002-03 Impact factor: 3.084
Authors: T H Bernard Cher; Hwee Sing Chan; Georg F Klein; Jörg Jabkowski; Gabriela Schadenböck-Kranzl; Otto Zach; Xavier Roca; S K Alex Law Journal: Biochem Biophys Res Commun Date: 2010-12-31 Impact factor: 3.575