Targeted gene sanger sequencing should remain the first-tier genetic test for children suspected to have the five common X-linked inborn errors of immunity

DATA AVAILABILITY STATEMENT : The original contributions presented in the study are included in the article/Supplementary Material. Further inquiries can be directed to the corresponding author.To address inborn errors of immunity (IEI) which were underdiagnosed in resource-limited regions, our centre developed and offered free genetic testing for the most common IEI by Sanger sequencing (SS) since 2001. With the establishment of The Asian Primary Immunodeficiency (APID) Network in 2009, the awareness and definitive diagnosis of IEI were further improved with collaboration among centres caring for IEI patients from East and Southeast Asia. We also started to use whole exome sequencing (WES) for undiagnosed cases and further extended our collaboration with centres from South Asia and Africa. With the increased use of Next Generation Sequencing (NGS), we have shifted our diagnostic practice from SS to WES. However, SS was still one of the key diagnostic tools for IEI for the past two decades. Our centre has performed 2,024 IEI SS genetic tests, with in-house protocol designed specifically for 84 genes, in 1,376 patients with 744 identified to have disease-causing mutations (54.1%). The high diagnostic rate after just one round of targeted gene SS for each of the 5 common IEI (X-linked agammaglobulinemia (XLA) 77.4%, Wiskott–Aldrich syndrome (WAS) 69.2%, X-linked chronic granulomatous disease (XCGD) 59.5%, X-linked severe combined immunodeficiency (XSCID) 51.1%, and X-linked hyper-IgM syndrome (HIGM1) 58.1%) demonstrated targeted gene SS should remain the first-tier genetic test for the 5 common X-linked IEI.The Hong Kong Society for Relief of Disabled Children and Jeffrey Modell Foundation.http://www.frontiersin.org/Immunologyam2023Paediatrics and Child Healt

Pilot study of a 3-day residential treatment for smoking cessation in Hong Kong

Introduction The Tung Wah Group of Hospitals Integrated Centre on Smoking Cessation has been providing free smoking cessation services since 2009. The average quit rate from 2009 to 2014 was 37%. In order to boost the quite rate, we have implemented a residential treatment program for smokers who volunteered to participate. Having run the program for two years, we conducted a retrospective cohort study to evaluate its effectiveness. Methods We recruited the participants who had failed previous quit attempts and who came to seek our smoking cessation services. A 3-day residential program of activities were arranged for our participants. Intensive individual and group counseling was provided. Pharmacotherapy was also provided to alleviate withdrawal symptoms. This was followed by our usual treatment and follow-up program. Self-reported 7-day point prevalence abstinence rate at 26 weeks based on intention-to-treat (ITT) analysis was assessed. Results A total of 40 clients volunteered to join the program, age 26 to 65 years old with a mean of 44.1 years. There were 25 (62.5%) males and 15 (37.5%) females. The quit rate at 26 weeks was 57.5%. Smokers older than 43 years, having cohabiting smokers, and smoking for more than 28 years, were more likely to quit and this was statistically significant. Conclusions This pilot study demonstrated that a 3-day residential program is effective in helping addicted smokers who volunteer to quit smoking and is cost effective compared to longer residential programs