Advances and updates on syndromic immunodeficiencies

Advances and updates on syndromic immunodeficiencies provides an overview of the latest research and clinical insights into syndromic immunodeficiencies, with a particular focus on Down syndrome and 22q11.2 deletion syndrome.

Session 1: Down syndrome: immunodeficiency and immune dysregulation:

Speaker:

• Dr Maaike Kusters: Consultant in Paediatric Immunology at Great Ormand Street Hospital and Honorary Associate Professor at the Institute of Child Health/University College London

Maaike Kusters discusses the immunodeficiency and immune dysregulation observed in individuals with Down syndrome, including increased susceptibility to infections, autoimmunity, and inflammation. The presentation covers the genetic basis of these immunological anomalies and the implications for clinical management, emphasising the importance of tailored healthcare approaches.

Session 2: 22q11.2 deletion syndrome and other syndromic thymic defects:

Speaker:

• Dr Alexandra Kreins: Paediatric Immunologist at Great Ormand Street Hospital (GOSH) and a Wellcome Trust Clinical Research Career Development Fellow at the UCL Great Ormand Street Institute of Child Heath in London, UK

Alexandra Kreins explores the complexities of thymic defects, particularly in 22q11.2 deletion syndrome, detailing the developmental aspects of the thymus and the resulting immunodeficiencies. The session also examines the potential of thymus transplantation and other emerging therapies to restore immune function.