Publications by authors named "Patrick Chun-Yin Chong"
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.
View Article and Find Full Text PDFParental vaccine hesitancy is a major barrier to achieving high vaccination uptake among children, particularly in young children during the coronavirus disease 2019 (COVID-19) pandemic. Developing herd immunity is a critical concept for overcoming the current pandemic. The purpose of this study is to reduce parental vaccine hesitancy through a focused educational seminar in ZOOM and to empower parents who are concerned about vaccinating their children to communicate with medical experts during live seminars.
View Article and Find Full Text PDFPhenomic Analysis of Chronic Granulomatous Disease Reveals More Severe Integumentary Infections in X-Linked Compared With Autosomal Recessive Chronic Granulomatous Disease.
Front Immunol
February 2022
Article Synopsis
- Chronic granulomatous disease (CGD) is a genetic immune disorder leading to frequent infections, inherited in either X-linked or autosomal recessive forms, and this study explores the differences in symptoms (phenotypes) between these two forms using Human Phenotype Ontology (HPO) terms.
- Data from 90 genetically diagnosed CGD patients from Asia and Africa were analyzed to compare the onset and types of infections experienced by X-linked (XL) and autosomal recessive (AR) patients.
- Findings revealed that XL-CGD patients tend to have earlier onset and more severe infections, with specific symptoms like perianal abscess and BCGitis being more common, highlighting the need for distinguishing features for clinical diagnosis.
Patients with paediatric-onset systemic lupus erythematosus (SLE) often present with more severe clinical courses than adult-onset patients. Although genome-wide DNA methylation (DNAm) profiling has been performed in adult-onset SLE patients, parallel data on paediatric-onset SLE are not available. Therefore, we undertook a genome-wide DNAm study in paediatric-onset SLE patients across multiple blood cell lineages.
View Article and Find Full Text PDFBackground: Idiopathic systemic capillary leak syndrome (ISCLS) is rare, and there has been about 32 cases reported in children worldwide since this disorder was first described in 1960. Clinical guidelines on the management approach stemming from robust scientific evidence are lacking. This case report presents the first reported paediatric case of severe ISCLS with significant myocardial oedema and emphasizes this disease's impact on a child's cardiac function.
View Article and Find Full Text PDFArticle Synopsis
- Severe Combined Immunodeficiency (SCID) is life-threatening and requires timely treatment, often delayed due to lack of newborn screening; family history of infant deaths related to SCID contributes to quicker diagnoses.
- In a study of 147 SCID patients, 94 had genetic diagnoses, revealing 88 different gene mutations, with an average diagnosis age of 4 months and a delay of 2 months in identification.
- Family history led to earlier presentations and diagnoses, while infections like candidiasis were common but resulted in later diagnosis times; clinicians often missed the significance of family history in clinical assessments.*