What is heterotaxic syndrome

Definition of immunodeficiency in heterotaxic syndrome: pilot study data

Short Summary

The aim of this study is to investigate the mechanisms of immunodeficiency in patients with heterotaxy syndrome through the use of novel biomarkers and a prospective questionnaire survey that documents the burden of infectious consequences after registration. It is known that patients with underactive spleen (functional asplenia or hyposplenia) secondary to other (non-cardiac) conditions such as sickle cell disease or inflammatory bowel disease have a characteristic deficiency of a B cell subclass known as IgM storage B- Cell is known. A certain subclass of B cells normally mature in the spleen and in those with an improperly functioning spleen, a significant deficiency of this B cell class is observed on flow cytometry.

Similarly, the same patients are found to have increased amounts of & quot; junk & quot; - DNA / nucleus have rest in their red blood cells. This is seen under microscopy as a dark particle within the red blood cells and is known as a Howell Jolly Body (typically less than 2% of red blood cells have these dark particles present). Part of the normal job of a functioning spleen is to rid the blood of red cells that contain nuclear debris and an underactive spleen, neglecting Howell Jolly Bodies build up in red blood cells in the bloodstream. Flow cytometry can very quickly and accurately quantify Howell Jolly Bodies as well as IgM storage B cells from a small (~ 1.5cc) blood sample. Normal IgM storage B-cell areas are known for their health Children from infancy allow the interpretation of results using normative data Areas.

The researchers plan to enroll 10 patients in this pilot study who have been diagnosed with heterotaxic syndrome (both asplenia and polysplenia) and prospectively to follow receiving the initial biomarker sample. The family is contacted every two weeks for a period of 12 weeks and asked a series of simple questions that lasted approximately 5 minutes about any recent infectious sequelae or symptoms. The questions will explain the history of the minor illness such as a mild fever or cough to more significant events such as admission for inpatient antibiotic therapy for bacterial sepsis. Ultimately, this pilot study became the investigators hope to obtain sufficient data to support funding applications for a larger, multicenter study that will allow us to develop biomarker thresholds for future risk of sepsis.