Areas of Research Spit for a Cure: New Study to Define the Role of Inheritance in Histiocytic Diseases

The blood stem cell matures through different pathways to produce many different types of histiocytes, now called dendritic cells (DC) that are central to the pathology of the histiocytic diseases. Langerhans cell histiocytosis (LCH), Juvenile Xanthogranuloma (JXG), Erdheim Chester Disease (ECD), Hemophagocytic Lymphohistiocytosis (HLH), and Rosai Dorfman Disease (RD) are all thought to result from abnormal dendritic cell development and function. The question remains, what genes or pathways malfunction and are responsible for these diseases?

While the scope and potential impact of this project is global, the design is relatively simple. With new genomic technology, we can obtain an incredible amount of genetic information from a spit sample. By analyzing and comparing the genetic information of a patient and the parents from several hundred families, we hope to identify and uncover the inherited risk factors in all Histiocytic Diseases.

Our goal for the first phase of this global study is to enroll 500 triads (patients and parents). All patients with a history of any histiocytic disorder and their parents are welcome to participate in this study.