Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States
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|ClinicalTrials.gov Identifier: NCT00266513|
Recruitment Status : Terminated
First Posted : December 16, 2005
Last Update Posted : October 6, 2017
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:
- X linked hyper IgM Syndrome which is caused by an abnormality in the CD40L gene.
- NEMO associated immune deficiency which is caused by an abnormality in a gene called NEMO.
- Common variable immunodeficiency (CVID) which has an unknown genetic basis.
- Other disorders of immunoglobulin production.
This study will:
- Better characterize the clinical features of CD40 L deficiency and NEMO associated immune deficiency and other related primary immune deficiency syndromes.
- Determine the frequency of CD40 L and Nemo abnormalities.
- Determine whether particular abnormalities in these genes are associated with more of less severe illness or with specific symptoms.
- Explore the basic mechanism by which these altered genes cause immune dysfunction.
- Identify other genes causing low immune globulin levels and related primary immune deficient states.
|Condition or disease|
|Hyper-IgM Syndrome Ectodermal Dysplasia|
|Study Type :||Observational|
|Actual Enrollment :||119 participants|
|Official Title:||Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States|
|Study Start Date :||December 14, 2005|
|Study Completion Date :||July 11, 2013|
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00266513
|United States, Maryland|
|National Institutes of Health Clinical Center, 9000 Rockville Pike|
|Bethesda, Maryland, United States, 20892|
|Principal Investigator:||Ashish K Jain, M.D.||National Institute of Allergy and Infectious Diseases (NIAID)|