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Studies of Disorders in Antibody Production and Related Primary Immunodeficiency States

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00266513
Recruitment Status : Terminated
First Posted : December 16, 2005
Last Update Posted : October 6, 2017
Information provided by:
National Institutes of Health Clinical Center (CC)

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.

Condition or disease
Hyper-IgM Syndrome Ectodermal Dysplasia

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.

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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

Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

All patients must have a known or suspected immune defect with hyper-IgM syndrome and/or disorders of immunoglobulin production. There will be no limit on age, sex, race, or disability. Normal volunteers must be healthy adults between the age of 18 and 70 years. All study participants enrolled on to this study must agree to allow PI to store research samples. Refusal to let PI store samples may lead to withdrawal fro this specific study.


The presence of an acquired abnormality, which leads to immune defects, such as HIV, chemotherapy, and malignancy are general exclusion criteria. Refusal to let us store samples may lead to withdrawal from this specific study. Other factors, which are in the judgment of the Principal Investigator PI that may interfere with patient evaluation or determine to pose an added risk for study participants are also criteria for exclusion.

Information from the National Library of Medicine

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 identifier (NCT number): NCT00266513

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United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
National Institute of Allergy and Infectious Diseases (NIAID)
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Principal Investigator: Ashish K Jain, M.D. National Institute of Allergy and Infectious Diseases (NIAID)

Layout table for additonal information Identifier: NCT00266513     History of Changes
Other Study ID Numbers: 060049
First Posted: December 16, 2005    Key Record Dates
Last Update Posted: October 6, 2017
Last Verified: July 11, 2013
Keywords provided by National Institutes of Health Clinical Center (CC):
CD40 Ligand
Ectodermal Dysplasia
Hyper-IgM Syndrome
Primary Immune Deficiency Disorders
Common Variable Immune Deficiency
Additional relevant MeSH terms:
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Hyper-IgM Immunodeficiency Syndrome
Hyper-IgM Immunodeficiency Syndrome, Type 1
Ectodermal Dysplasia
Immunologic Deficiency Syndromes
Immune System Diseases
Abnormalities, Multiple
Congenital Abnormalities
Skin Abnormalities
Skin Diseases, Genetic
Genetic Diseases, Inborn
Skin Diseases
Blood Protein Disorders
Hematologic Diseases
Genetic Diseases, X-Linked
Immunologic Factors
Physiological Effects of Drugs