Yu Xia1,2, Tingyan He1, Yin Luo1, Chengrong Li1, Che Kang Lim2, Hassan Abolhassani2,3, Jun Yang1, Lennart Hammarström2,4. 1. Department of Immunology, Shenzhen Children's Hospital, Shenzhen, China. 2. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden. 3. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. 4. BGI-Shenzhen, Shenzhen, China.
Abstract
BACKGROUND: Primary immunodeficiency disorders (PID) is a group of heterogeneous diseases mainly characterized by severe and recurrent infections and an increased susceptibility to lymphoproliferative, atopic, and autoimmune conditions. The clinical diagnosis should preferably be complemented by a genetic diagnosis. To date, PID-related reports from China seldom attempt to make a genetic test for their patients. METHODS: Our study aimed to evaluate demographic data, clinical manifestations, and molecular diagnosis of PID patients from southern China. Moreover, by comparison with previous reports, we provide a picture of the current status of PID in mainland China. A total number of 160 pediatric PID patients (106 males and 54 females) were enrolled, and targeted next-generation sequencing was conducted using 269 PID-related genes and subsequently confirmed by Sanger sequencing and familial segregation analysis. RESULT: The autoinflammatory disease group was the most common subcategory of PID (20%), followed by immune dysregulation (17.5%) and combined immunodeficiencies (16.2%). Antibody deficiency disorders were identified in only 11.9% of the cohort. The putative causative gene was identified in 70 patients (43.8%), and an X-linked pattern was found in 45.7% of the genetically diagnosed patients. CONCLUSION: The current study provides the first collective study of PID phenotypes and genotypes in south China and provides a strong argument for the diagnostic application of targeted next-generation sequencing panels in patients with suspected PID.
BACKGROUND:Primary immunodeficiency disorders (PID) is a group of heterogeneous diseases mainly characterized by severe and recurrent infections and an increased susceptibility to lymphoproliferative, atopic, and autoimmune conditions. The clinical diagnosis should preferably be complemented by a genetic diagnosis. To date, PID-related reports from China seldom attempt to make a genetic test for their patients. METHODS: Our study aimed to evaluate demographic data, clinical manifestations, and molecular diagnosis of PID patients from southern China. Moreover, by comparison with previous reports, we provide a picture of the current status of PID in mainland China. A total number of 160 pediatric PID patients (106 males and 54 females) were enrolled, and targeted next-generation sequencing was conducted using 269 PID-related genes and subsequently confirmed by Sanger sequencing and familial segregation analysis. RESULT: The autoinflammatory disease group was the most common subcategory of PID (20%), followed by immune dysregulation (17.5%) and combined immunodeficiencies (16.2%). Antibody deficiency disorders were identified in only 11.9% of the cohort. The putative causative gene was identified in 70 patients (43.8%), and an X-linked pattern was found in 45.7% of the genetically diagnosed patients. CONCLUSION: The current study provides the first collective study of PID phenotypes and genotypes in south China and provides a strong argument for the diagnostic application of targeted next-generation sequencing panels in patients with suspected PID.
Authors: Jacques J M van Dongen; Mirjam van der Burg; Tomas Kalina; Martin Perez-Andres; Ester Mejstrikova; Marcela Vlkova; Eduardo Lopez-Granados; Marjolein Wentink; Anne-Kathrin Kienzler; Jan Philippé; Ana E Sousa; Menno C van Zelm; Elena Blanco; Alberto Orfao Journal: Front Immunol Date: 2019-06-13 Impact factor: 7.561
Authors: Rabab E El Hawary; Safa S Meshaal; Dalia S Abd Elaziz; Radwa Alkady; Sohilla Lotfy; Alia Eldash; Aya Erfan; Engy A Chohayeb; Mai M Saad; Rania K Darwish; Jeannette A Boutros; Nermeen M Galal; Aisha M Elmarsafy Journal: J Clin Immunol Date: 2022-04-28 Impact factor: 8.542