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(for at least one location)
Describes the nature of a clinical study. Types include:
The purpose of this study is to build a National Registry of individuals with one of the group of primary immune deficiency diseases. A "Registry" is a list of basic information about people who have a certain disease or condition in common. These immune deficiency diseases are thought to be rare and include: Severe combined immunodeficiency (SCID), leukocyte adhesion deficiency (LAD), X-linked Agammaglobulinemia (XLA), common variable immune deficiency (CVID), DiGeorge syndrome (DGS), Hyper IgM syndrome (HIGM), Wiskott Aldrich syndrome (WAS) and chronic granulomatous disease (CGD). We would like to contribute data on a number of subjects with these relatively rare diseases to this National Registry Data Base. The information will be age, sex, race or ethnic group, immunologic lab tests that were used to diagnose the condition, what complications may have occurred since the condition started, lung disease, blood changes, etc. and the results of various treatments used. The goal is to discover basic outcome data, ethnic, racial characteristics, kind of complications and useful treatments. You will not be contacted by anyone unless you authorize it. If a new study about you (or your child’s) immune defect comes up, your doctor will be notified, who can then share this with you to find out if you are interested in participating or not. Alternatively you may elect to be contacted directly by the Registry to determine your interest in participation.
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Common variable immunodeficiency (CVID) is a clinically, genetically and immunologically heterogeneous primary immunodeficiency disease (PID). The goal of this study is to perform whole exome sequencing (WES) to assess for monogenic defects that maybe be disease causing and may help in selection of appropriate therapeutic interventions including the possibility of hemopoietic stem cell transplant (HSCT).
Open for enrollment
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