In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• October 2022

Asthma exacerbations in children are associated with respiratory viral infection and atopy, resulting in systemic immune activation and infiltration of immune cells into the airways. The gene networks driving the immune activation and subsequent migration of immune cells into the airways remains incompletely understood. Cellular and molecular profiling of PBMC was employed on paired samples obtained from atopic asthmatic children during acute virus-associated exacerbations and later during convalescence. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• July 2023

Dysbiosis refers to a reduction in microbial diversity, combined with a loss of beneficial taxa, and an increase in pathogenic microorganisms. Dysbiosis of the intestinal microbiota can have a substantial effect on the nervous and immune systems, contributing to the onset of several inflammatory diseases. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• September 2021

Preterm infants are at increased risk for invasive neonatal bacterial infections. S. epidermidis, a ubiquitous skin commensal, is a major cause of late-onset neonatal sepsis, particularly in high-resource settings. The vulnerability of preterm infants to serious bacterial infections is commonly attributed to their distinct and developing immune system. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• January 2022

Bronchiectasis (not related to cystic fibrosis) is a chronic lung disease caused by a range of etiologies but characterized by abnormal airway dilatation, recurrent respiratory symptoms, impaired quality of life and reduced life expectancy. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• September 2022

Neutrophils are the most abundant immune cell in circulation. However, due to a number of technical challenges for researchers, including the neutrophil's short lifespan and difficulties with preservation, they are often discarded during blood processing and thus ignored in cohort studies. As such, the contribution of neutrophils to disease and their involvement in disease mechanisms is less explored compared with other immune cell types. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• February 2023

Peter Britta Richmond Regli-von Ungern-Sternberg PC BRVUS MBBS MRCP(UK) FRACP MD, PhD, DEAA, FANZA Head, Vaccine Trials Group Chair of Paediatric ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• July 2022

Sickle cell disease (SCD) is an inherited red blood cell disease that results in a multitude of medical complications, including an increased risk of invasive disease caused by encapsulated bacteria, such as Streptococcus pneumoniae. Pneumococcal vaccines have contributed to a significant reduction in pneumococcal disease (PD) in children and adults, including those with SCD. This phase 3 study evaluated the safety and immunogenicity of V114, a 15-valent pneumococcal conjugate vaccine, in children with SCD. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• February 2023

A significant number of babies present transiently with low protein kinase C zeta (PKCζ) levels in cord blood T cells, associated with reduced ability to transition from a neonatal Th2 to a mature Th1 cytokine bias, leading to a higher risk of developing allergic sensitisation, compared to neonates whose T cells have 'normal' PKCζ levels. However, the importance of PKCζ signalling in regulating their differentiation from a Th2 to a Th1 cytokine phenotype propensity remains undefined. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• Jun 2023

The way the immune system operates differs between males and females. This is due to both differential expression of immune-related genes from the sex chromosomes as well as the immune modulatory properties of sex hormones. Together, these effects contribute to a skewed prevalence of disease and disease course between males and females, including allergic-, infectious-, autoimmune-, and cancerous disease. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• July 2023