Clinical Trial: Molecular and Clinical Studies of Primary Immunodeficiency Diseases

Study Status: Enrolling by invitation
Recruit Status: Enrolling by invitation
Study Type: Observational



Official Title: Molecular and Clinical Studies of Primary Immunodeficiency Diseases

Brief Summary:

This study will try to identify mutations in the genes responsible for primary immunodeficiency disorders (inherited diseases of the immune system) and evaluate the course of these diseases in patients over time to learn more about the medical problems they cause. The immune system is composed of various cells (e.g., T and B cells and phagocytes) and other substances (complement system) that protect the body from infections and cancer. Abnormalities in the gene(s) responsible for the function of these components can lead to serious infections and other immune problems.

Patients with Wiskott-Aldrich syndrome, adenosine deaminase (ADA) deficiency, Janus Associated Kinase 3 (JAK3) deficiency, common variable immunodeficiency (CVID) and other immunodeficiencies may be eligible for this study. Participants will undergo a medical and family history, physical examination, and additional procedures and tests that may include the following:

  1. Blood tests for: routine laboratory studies (i.e. cell counts, enzyme levels, electrolytes, etc.); HIV testing; immune response to various substances; genetic testing; and establishment of cell lines to maintain a supply of cells for continued study
  2. Urine and saliva tests for biochemical studies
  3. Skin tests to assess response to antigens such as the viruses and bacteria responsible for tetanus, candida, tuberculosis, diphtheria, chicken pox, and other diseases.
  4. Skin and lymph node biopsies for tissue and DNA studies
  5. Chest X-ray, CT scans, or both to look for cancer or various infections.
  6. Pulmonary function test to assess lung capacity and a breath test to test for H. pylori infection.