22q11 Deletion Syndrome Seminar Series

The Stanford 22q11 Deletion Syndrome Seminar Series aims to encourage close interdisciplinary dialogue through a series of quarterly research seminars throughout 2022.  Seminars will be a regular forum for discussion, highlighting emerging research in 22q11.2DS and facilitating knowledge exchange within the 22q11.2DS research community.

Upcoming Seminars - coming soon!

Past Seminars

Changes to the immune system over time in 22q11.2 Deletion Syndrome

SpeakerDr. Kathleen Sullivan, Wallace Chair of Pediatrics, Professor of Pediatrics, Children’s Hospital of Philadelphia

Topic: The characteristics of the immune system dynamically evolve in 22q11.2 deletion syndrome. Early in life, T cell numbers are compromised whereas later in life B cell and qualitative T cell defects appear.

The role of culture thymus tissue implantation in the treatment of congenital athymia

SpeakerDr. John Sleasman, MD, Dr. Glenn A. Kiser and Eltha Muriel Kiser Professor of Pediatrics, Duke University School of Medicine

Topic: The presentation will give an update of the indications for the use of cultured thymus tissues implantation in the treatment of congenital athymia. The immune criteria for initiating therapy and pre-implantation management will be discussed as well the role of immune suppression prior to implantation. The steps and logistics involved in thymus procurement, processing, and implantation will be described. T cell reconstitution and post implantation complications will also be reviewed. An outline for the process of referring patients for treatment will be outlined as well as an update of clinical outcomes among children who have received thymus implantation.

The Role of Hematopoietic stem Cell Transplantation in the Treatment of DiGeorge Syndrome 

SpeakerDr Andrew GennerySir James Spence Professor of Child Health and Professor of Paediatric Immunology and Haematopoietic Stem Cell Transplantation, Translational and Clinical Research Institute, Newcastle University 

Topic: The most severely immune deficient patients with DiGeorge Syndrome present with a T-B+NK+ severe combined immune deficiency phenotype, occasionally with Omenn syndrome-like features. The treatment of choice today would be thymic transplantation, but that is not available to all patients. Additionally, some may have a co-existent gene defect in the hematopoietic stem cell, which also causes severe combined immune deficiency. This talk will review the rationale for hematopoietic stem cell therapy in these patients, discuss optimum approaches to this treatment and review the results of patients who have received this treatment.