Targeted next‐generation sequencing for genetic diagnosis of 160 patients with primary immunodeficiency in south China
| Autor: | Chengrong Li, Yu Xia, Lennart Hammarström, Hassan Abolhassani, Yin Luo, Jun Yang, Che Kang Lim, Tingyan He |
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| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine China medicine.medical_specialty Adolescent Genotype Immunology medicine.disease_cause DNA sequencing 03 medical and health sciences Combined immunodeficiencies symbols.namesake 0302 clinical medicine Internal medicine medicine Humans Immunology and Allergy Genetic Predisposition to Disease Genetic Testing Child Sanger sequencing business.industry Immunologic Deficiency Syndromes Infant Newborn High-Throughput Nucleotide Sequencing Infant Immune dysregulation medicine.disease Phenotype 030104 developmental biology Child Preschool Pediatrics Perinatology and Child Health Cohort Primary immunodeficiency symbols Female Genetic diagnosis business 030215 immunology |
| Zdroj: | Pediatric Allergy and Immunology. 29:863-872 |
| ISSN: | 1399-3038 0905-6157 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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