Clinical Trial: Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States

Study Status: Terminated
Recruit Status: Terminated
Study Type: Observational



Official Title: Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States

Brief Summary:

This study investigates gene abnormalities in Primary Immune Deficiency(PID) with a goal of improving the diagnosis and treatment of patients.

The specific disorders include:

  1. X linked hyper IgM Syndrome which is caused by an abnormality in the CD40L gene.
  2. NEMO associated immune deficiency which is caused by an abnormality in a gene called NEMO.
  3. Common variable immunodeficiency (CVID) which has an unknown genetic basis.
  4. Other disorders of immunoglobulin production.

This study will:

  1. Better characterize the clinical features of CD40 L deficiency and NEMO associated immune deficiency and other related primary immune deficiency syndromes.
  2. Determine the frequency of CD40 L and Nemo abnormalities.
  3. Determine whether particular abnormalities in these genes are associated with more of less severe illness or with specific symptoms.
  4. Explore the basic mechanism by which these altered genes cause immune dysfunction.
  5. Identify other genes causing low immune globulin levels and related primary immune deficient states.