Molecular diagnosis of severe combined immunodeficiency - Identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children

Pamela P.W. LeeKoon Wing ChanTong Xin ChenLi Ping JiangXiao Chuan WangHua Song ZengXiang Yuan ChenWoei Kang LiewJing ChenKit Man ChuLee Lee ChanLynette ShekAnselm C.W. LeeHsin Hui YuQiang LiChen Guang XuGeraldine Sultan-UgdoracionZarina Abdul LatiffAmir Hamzah Abdul LatiffOrathai JirapongsananurukMarco H.K. HoTsz Leung LeeXi Qiang YangYu Lung LauThe University of Hong Kong Li Ka Shing Faculty of MedicineShanghai Jiao Tong University School of MedicineChongqing Medical UniversityShanghai Children's Medical CenterGuangzhou Children's HospitalKK Children's HospitalUniversity of Malaya Medical CentreNational University of SingaporeMount Elizabeth Medical CentreNational Taiwan University HospitalWest China Hospital of Sichuan UniversitySun Yat-Sen UniversitySan Pedro HospitalUniversiti Kebangsaan MalaysiaMonash University MalaysiaMahidol University2018-05-032018-05-032011-04-01Journal of Clinical Immunology. Vol.31, No.2 (2011), 281-29615732592027191422-s2.0-79959694621https://repository.li.mahidol.ac.th/handle/20.500.14594/12065Severe combined immunodeficiencies (SCID) are a group of rare inherited disorders with profound defects in T cell and B cell immunity. From 2005 to 2010, our unit performed testing for IL2RG, JAK3, IL7R, RAG1, RAG2, DCLRE1C, LIG4, AK2, and ZAP70 mutations in 42 Chinese and Southeast Asian infants with SCID adopting a candidate gene approach, based on patient's gender, immune phenotype, and inheritance pattern. Mutations were identified in 26 patients, including IL2RG (n=19), IL7R (n=2), JAK3 (n=2), RAG1 (n=1), RAG2 (n=1), and DCLRE1C (n=1). Among 12 patients who underwent hematopoietic stem cell transplantation, eight patients survived. Complications and morbidities during transplant period were significant, especially disseminated bacillus Calmette-Guérin disease which was often difficult to control. This is the first cohort study on SCID in the Chinese and Southeast Asian population, based on a multi-centered collaborative research network. The foremost issue is service provision for early detection, diagnosis, management, and definitive treatment for patients with SCID. National management guidelines for SCID should be established, and research into an efficient platform for genetic diagnosis is needed. © 2010 Springer Science+Business Media, LLC.Mahidol UniversityImmunology and MicrobiologyMedicineMolecular diagnosis of severe combined immunodeficiency - Identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian childrenArticleSCOPUS10.1007/s10875-010-9489-z