NCT00266513

Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States

• Status: Terminated
• Phase: —
• Study type: Observational
• Enrollment: 119 (actual)
• Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) · NIH
• Sex: All
• Age: —
• Healthy volunteers: Accepted

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.

Detailed description

This protocol is designed to study the genetics and pathophysiology of Hyper-IgM syndrome, NEMO associated immune deficiency, patients with related primary immune deficiency disorders, and the blood relatives of immunodeficient patients. Patients will undergo evaluations that include history/physical, blood sampling, genetic testing, and possible tissue sampling. Among the aims of this protocol are to better understand genetic factors that lead to defects in host defense, and to use modern and evolving methods in molecular and cellular biology to elucidate the pathogenesis of these diseases. A better understanding of primary immunodeficiency could allow for the rational development of novel therapies for such diseases and to benefit future patients, but it might not benefit current patients directly. Routine follow-up may occur every six months - with evaluation and blood sampling. Under some circumstances, we may provide treatment that relates to the immune deficiency. These treatments will follow standard medical practice.

Conditions

• Hyper-IgM Syndrome
• Ectodermal Dysplasia

Timeline

• Start date: 2005-12-14
• Completion: 2013-07-11
• First posted: 2005-12-16
• Last updated: 2017-10-06

Locations

1 site across 1 country: United States