First thymic transplant in the Czech Republic as a novel therapeutic option for patients with complete DiGeorge syndrome
Abstract
DiGeorge syndrome is a primary immunodeficiency tied to thymic aplasia and T lymphopenia. Patients with complete DiGeorge syndrome suffer from life-threatening combined immunodeficiency.
Until recently, the only therapeutic option for treatment of complete DiGeorge syn-drome was bone marrow transplantation, which was however encumbered by many risks and had unfavorable long-term prognosis. In this text we present thymic transplantation as a novel therapeutic option for patients with complete DiGeorge syndrome, via the case report of the first Czech patient who underwent this procedure.
The case report includes both clinical and laboratory story and is accompanied by photos and charts of laboratory results. The text also presents the methodology of the procedure and touches on practical aspects of diagnosis, indication and organization of this current ground-breaking procedure