Primary immunodeficiency

Displaying 4 studies

  • Genetic studies in Common Variable Immunodeficiency (CVID) Rochester, MN

    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).

  • Biobanking Study in Immunodeficiency Patients Rochester, MN

    Primary immunodeficiencies (PID) are diseases that affect any part of multiple components of the immune system, resulting in abnormal and/or impaired immune responses and increased susceptibility to life threatening infections, autoimmune disease and neoplasias.  The samples collected in this study will provide a valuable and unique sample database that will permit formulation of research protocols aimed at evaluating the biological underpinnings of immune competence and function in PID and the development of novel methods for the assessment of immune parameters in diagnosis of these immunodeficiency diseases.

  • Assessment of Sleep Disturbance and Sleep Disordered Breathing in Primary Immunodeficiency Disorders Jacksonville, FL

    The purpose of this research is to understand sleep disturbances in  patients with primary immunodeficiency.

  • Participation in a Research Registry for Immune Disorders Rochester, MN

    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 ...


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