1. 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
- Author
-
Lee Lee Chan, Tong Xin Chen, Zarina Abdul Latiff, Kit Man Chu, Woei Kang Liew, Li Ping Jiang, Acw Lee, Tsz Leung Lee, Koon Wing Chan, Xiaochuan Wang, Yu-Lung Lau, Qiang Li, Jing Chen, Hsin-Hui Yu, Pamela Pui Wah Lee, Hua Song Zeng, Geraldine Sultan-Ugdoracion, Xiang Yuan Chen, Xi Qiang Yang, Chen Guang Xu, Marco Ho, Orathai Jirapongsananuruk, Amir Hamzah Abdul Latiff, and Lynette Pei-Chi Shek
- Subjects
Male ,Pediatrics ,medicine.medical_specialty ,DCLRE1C ,medicine.medical_treatment ,Immunology ,Population ,Hematopoietic stem cell transplantation ,Infections ,Southeast asian ,Cohort Studies ,Combined immunodeficiencies ,Asian People ,Agammaglobulinemia ,medicine ,Humans ,Immunology and Allergy ,education ,Homeodomain Proteins ,Severe combined immunodeficiency ,education.field_of_study ,Receptors, Interleukin-7 ,business.industry ,Hematopoietic Stem Cell Transplantation ,Infant, Newborn ,Infant ,Janus Kinase 3 ,Nuclear Proteins ,Leukopenia ,Endonucleases ,medicine.disease ,DNA-Binding Proteins ,Treatment Outcome ,Child, Preschool ,Mutation ,Cohort ,Female ,Severe Combined Immunodeficiency ,business ,Interleukin Receptor Common gamma Subunit ,Cohort study - Abstract
Severe 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.
- Published
- 2010
- Full Text
- View/download PDF