Webinar - Managing 22q Deletion Syndrome: A Real CATCH 22 for Pediatric Hematologists/Oncologists

22q11 deletion syndrome is the most common syndromic microdeletion, identified in almost 1 in 2,000 live births. The loss of many genes results in multi system dysfunction and significant morbidity. The phenotype can be quite variable, which can lead to diagnostic challenges. Immunodeficiency, however, is common, affecting up to 75% of children. This can be mild to moderate, thus predisposing to autoimmune cytopenias, or severe, causing severe T cell deficiencies which are only treated by thymic tissue transplant. Additionally, the deletion can sometimes encompass the GP1bB gene, leading to a Bernard-Soulier phenotype. It is important for hematologists to recognize the syndrome as it has important implications for other potential complications as well as the use of immunosuppression.

Learning Objectives:

1.      Understand the pathophysiology of 22q11 deletion syndrome

2.      Recognize the common hematological complications seen in this disorder

3.      Review the use of thymic transplant as definitive therapy in complete 22q11 deletion

Speakers:

·        Blachy J. Dávila Saldaña, MD (moderator)

·        Hanadys Ale, MD

·        John Sleasman, MD

The webinar features a lecture presentation followed by recorded Q/A. Registration includes on-demand access to the full recording.